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Bhardwaj B, Guleria P, Tevatia A, Pethan M, Sharma S, Rana M. Inflammatory myofibroblastic tumour of cervix: Uncommon pathology in an unlikely location - A literature review. Eur J Obstet Gynecol Reprod Biol X 2025; 26:100375. [PMID: 40165850 PMCID: PMC11957800 DOI: 10.1016/j.eurox.2025.100375] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/18/2024] [Revised: 12/17/2024] [Accepted: 03/03/2025] [Indexed: 04/02/2025] Open
Abstract
Background Inflammatory myofibroblastic tumours (IMTs) of the uterine cervix are extremely rare, benign mesenchymal neoplasms, characterized by the proliferation of myofibroblasts within an inflammatory background. IMTs most commonly occur in the lungs and abdomen, and their occurrence in the female genital tract, particularly the uterine cervix, is exceedingly rare. The optimal management of these tumours remains under investigation due to the limited number of reported cases. Objectives This literature review aims to provide an overview of the clinical presentation, diagnostic challenges and management strategies of uterine cervical IMTs. This review focuses on the roles of histopathology, immunohistochemistry (IHC) and molecular analysis in diagnosing these tumours, and discusses treatment outcomes and follow-up strategies. Methods A comprehensive review of the literature was conducted using PubMed, Google Scholar and other relevant databases. Relevant case reports and studies published between 2000 and 2024 were included. The primary outcomes assessed were clinical presentation, diagnostic features, treatment modalities and recurrence/metastasis rates. Results Eleven reports of IMTs of the uterine cervix were identified in the literature search, and six of these were included in this review. Clinical presentation primarily includes abnormal uterine bleeding (AUB), often with symptoms of menorrhagia and dysmenorrhoea. Imaging studies and histopathological examination play key roles in diagnosis, with IHC markers such as smooth muscle actin, desmin and anaplastic lymphoma kinase (ALK)-1 being used frequently. Surgical resection remains the mainstay of treatment, with some cases also benefiting from targeted therapy for recurrent or metastatic disease. Conclusion IMTs of the uterine cervix are rare but are increasingly recognized in clinical practice. They are typically benign with a low risk of malignancy, although local recurrence is possible, especially in cases of incomplete resection. Diagnosis relies heavily on histopathological and molecular analysis, with ALK gene rearrangements being an important molecular finding. While surgical excision remains the primary treatment, ongoing research into targeted therapies, including ALK inhibitors, offers promising avenues for management. This review emphasizes the need for long-term follow-up given the potential for recurrence.
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Affiliation(s)
- B. Bhardwaj
- Department of Obstetrics and Gynaecology, Army Hospital R&R, New Delhi, India
| | - P. Guleria
- Department of Laboratory Sciences, Command Hospital (Southern Command), India
| | - A. Tevatia
- Department of Obstetrics and Gynaecology, Armed Forces Medical College Pune, Pune, India
| | - M. Pethan
- Department of Obstetrics and Gynaecology, Armed Forces Medical College Pune, Pune, India
| | - S. Sharma
- Department of Obstetrics and Gynaecology, Armed Forces Medical College Pune, Pune, India
| | - M. Rana
- Department of Pathology, Armed Forces Medical College Pune, Pune, India
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2
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Park H, Lee J, Lee S, Jung JY. Grading chondroid tumors through MRI radiomics: enchondroma, low-grade chondrosarcoma and higher-grade chondrosarcoma. BMC Cancer 2025; 25:918. [PMID: 40405123 PMCID: PMC12100807 DOI: 10.1186/s12885-025-14330-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/13/2025] [Accepted: 05/14/2025] [Indexed: 05/24/2025] Open
Abstract
BACKGROUND To develop a multiclass radiomics model for differentiating chondroid bone tumors using preoperative MRI. METHODS This retrospective study included 120 patients (92 enchondromas, 16 low-grade chondrosarcomas, and 12 intermediate-to-high-grade chondrosarcomas) who underwent contrast-enhanced MRI between 2009 and 2019. Tumor segmentation was manually performed by a musculoskeletal radiologist and validated by a senior radiologist. We used least absolute shrinkage and selection operator (LASSO) and random forest (RF) for feature selection and classification, with and without synthetic minority oversampling technique (SMOTE). Model performance was evaluated using five-fold cross-validation with average precision, accuracy, area under the curve (AUC), and weighted kappa statistics. RESULTS The LASSO + RF model based on all sequences achieved the highest accuracy (0.826 ± 0.065) and AUC (0.967 ± 0.027). The highest mAP (0.750 ± 0.095) was observed in the SMOTE-enhanced T2WI-based model, highlighting the potential impact of class imbalance. Quadratic weighted kappa values ranged from 0.648 to 0.731 across models, indicating substantial agreement with pathological results. CONCLUSIONS Preoperative MRI-based radiomics provides a robust method for the classification of chondroid bone tumors, potentially enhancing clinical decision-making.
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Affiliation(s)
- Hyerim Park
- Department of Radiology, College of Medicine, Soonchunhyang University Cheonan Hospital, Soonchunhyang University of Korea, Cheonan, Republic of Korea
| | - Jooyeon Lee
- Department of Biostatistics and Data Science, UTHealth Houston School of Public Health, Houston, TX, USA
| | - Seungeun Lee
- Department of Radiology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 06591, Republic of Korea
| | - Joon-Yong Jung
- Department of Radiology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 06591, Republic of Korea.
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3
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Xu S, Zhang H, Tian Y. Pericytes in hematogenous metastasis: mechanistic insights and therapeutic approaches. Cell Oncol (Dordr) 2025:10.1007/s13402-025-01073-6. [PMID: 40392500 DOI: 10.1007/s13402-025-01073-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2025] [Accepted: 05/09/2025] [Indexed: 05/22/2025] Open
Abstract
Metastasis, the leading cause of cancer-related deaths, underscores the critical need to understand its regulatory mechanisms to improve prevention and treatment strategies for late-stage tumors. Hematogenous dissemination is a key route of metastasis. However, as the gatekeeper of vessels, the role of pericytes in hematogenous metastasis remains largely unknown. In this review, we comprehensively explore the contributions of pericytes throughout the metastatic cascade, particularly their functions that extend beyond influencing tumor angiogenesis. Pericytes should not be perceived as passive bystanders, but rather as active participants in various stages of the metastatic cascade. Pericytes-targeted therapy may provide novel insights for preventing and treating advanced-stage tumor.
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Affiliation(s)
- Shuo Xu
- Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning Province, 110004, China
| | - Hong Zhang
- Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning Province, 110004, China.
| | - Yu Tian
- Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning Province, 110004, China.
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4
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Liu M, Fan M, Li D, Zhang G, Li Q. Pediatic intracranial synovial sarcoma: a case report. Discov Oncol 2025; 16:811. [PMID: 40388000 PMCID: PMC12089011 DOI: 10.1007/s12672-025-02655-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/25/2025] [Accepted: 05/09/2025] [Indexed: 05/20/2025] Open
Abstract
OBJECT To investigate the MR imaging characteristics of intracranial synovial sarcoma by reviewing this case and literature, aiming to improve preoperative diagnostic accuracy for radiologists and neurosurgeons and guide appropriate treatment planning. MATERIAL AND METHODS The clinical and MR images of 1 case with SS in the brain by pathology were retrospectively analyzed, and the causes of misdiagnosis were analyzed Combined with relevant literature. RESULTS MR showed a solid cystic mass in the right frontal lobe, isointense on T1WI, heterogeneous signal on T2WI, Elevated signal on DWI, obvious uneven enhancement on T1WI, and "triple signal sign" and "cobblestone sign" appearance. CONCLUSION SS in the brain is very rare. MR has certain imaging features, perfect MR examination is helpful for differential diagnosis.
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Affiliation(s)
- Ming Liu
- Department of Radiology, The Second People's Hospital of Guiyang (Jinyang Hospital), Guiyang, Guizhou, 550001, China.
| | - Menglei Fan
- Department of Pathology, The Second People's Hospital of Guiyang (Jinyang Hospital), Guiyang, Guizhou, China
| | - Dejiong Li
- Department of Radiology, The Second People's Hospital of Guiyang (Jinyang Hospital), Guiyang, Guizhou, 550001, China
| | - Guoping Zhang
- Department of Radiology, The Second People's Hospital of Guiyang (Jinyang Hospital), Guiyang, Guizhou, 550001, China
| | - Qunwu Li
- Department of Radiology, The Second People's Hospital of Guiyang (Jinyang Hospital), Guiyang, Guizhou, 550001, China
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Zhao Q, Hu W, Xia Y, Dai S, Wu X, Chen J, Yuan X, Zhong T, Xi X, Wang Q. Feasibility of machine learning-based modeling and prediction to assess osteosarcoma outcomes. Sci Rep 2025; 15:17386. [PMID: 40389469 PMCID: PMC12089500 DOI: 10.1038/s41598-025-00179-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/03/2024] [Accepted: 04/25/2025] [Indexed: 05/21/2025] Open
Abstract
Osteosarcoma, an aggressive bone malignancy predominantly affecting children and adolescents, is characterized by a poor prognosis and high mortality rates. The development of reliable prognostic tools is critical for advancing personalized treatment strategies. However, identifying robust gene signatures to predict osteosarcoma outcomes remains a significant challenge. In this study, we analyzed gene expression data from 138 osteosarcoma samples across two multicenter cohorts and identified 14 consensus prognosis-associated genes via univariate Cox regression analysis. Using 66 combinations of 10 machine learning (ML) algorithms, we developed a machine learning-derived prognostic signature (MLDPS) optimized by the average C-index across TARGET, GSE21257, and merged cohorts. The MLDPS effectively stratified osteosarcoma patients into high- and low-risk score groups, achieving strong predictive performance for 1-, 3-, and 5-year overall survival (AUC range: 0.852 - 0.963). The MLDPS, comprising seven genes (CTNNBIP1, CORT, DLX2, TERT, BBS4, SLC7A1, NKX2-3), exhibited superior predictive accuracy compared to 10 established gene signatures. The findings of the MLDPS carry significant clinical implications for osteosarcoma treatment. Patients with a high-risk score demonstrated worse prognosis, increased metastasis risk, reduced immune infiltrations, and greater sensitivity to immunotherapy. Conversely, low-risk patients exhibited prolonged survival and distinct drug sensitivities. These findings underscore the potential of MLDPS to guide risk stratification, inform personalized therapeutic strategies, and improve clinical management in osteosarcoma.
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Affiliation(s)
- Qinfei Zhao
- Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, Jiangxi, China
| | - Weiquan Hu
- Department of Joint Surgery, Ganzhou People's Hospital, Ganzhou, 341000, Jiangxi, China
| | - Yu Xia
- Department of Orthopaedics, The Second Xiangya Hospital, Central South University, 139 Renmin Road, Changsha, 410011, Hunan, China
| | - Shengyun Dai
- National Institutes for Food and Drug Control, Beijing, China
| | - Xiangsheng Wu
- Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, Jiangxi, China
| | - Jing Chen
- Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, Jiangxi, China
| | - Xiaoying Yuan
- The First School of Clinical Medicine, Gannan Medical University, Ganzhou, 341000, Jiangxi, China
| | - Tianyu Zhong
- Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, Jiangxi, China.
| | - Xuxiang Xi
- Department of Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, Jiangxi, China.
| | - Qi Wang
- The First School of Clinical Medicine, Gannan Medical University, Ganzhou, 341000, Jiangxi, China.
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6
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Zuo P, Zhang B, Zou W, Li H, Wang Y. Clinical features and surgical outcomes of primary intracranial synovial sarcomas. J Clin Neurosci 2025; 137:111298. [PMID: 40339243 DOI: 10.1016/j.jocn.2025.111298] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/02/2024] [Revised: 04/02/2025] [Accepted: 04/29/2025] [Indexed: 05/10/2025]
Abstract
OBJECTIVE Primary intracranial synovial sarcomas (PISSs) are extremely rare, with only 30 reported cases in the literature. The aim of this study is to outline the clinical characteristics of PISSs, examine prognostic risk factors, and attempt to develop an optimal treatment strategy based on the available data. METHODS We included a total of 33 PISS cases, comprising 3 patients from our institution and 30 patients documented in the literature. We collated clinical data from these cases and conducted an analysis of prognostic risk factors using Cox proportional hazards models and Kaplan-Meier methods. RESULTS The cohort consisted of 21 males and 12 females, with an average age of 30.0 ± 18.5 years (ranging from 1 to 81 years). Among these cases, gross total resection (GTR) was performed in 21 (63.6 %) cases, non-GTR in 11 (33.3 %), and biopsy in 1 (3.0 %) case. Additionally, 25 patients (78.1 %) received RT (Radiotherapy), and 6 patients (18.8 %) underwent CT (Chemotherapy). Over a mean follow-up period of 11.5 ± 14.1 months (ranging from 2 to 84 months), tumor recurrence was observed in 27 patients (90 %), and 21 patients (70 %) died, with an average follow-up duration of 18.9 ± 21.6 months (ranging from 2 to 105 months). Multivariate Cox regression analysis revealed that non-GTR and no RT was independent adverse factors for both PFS (Progression-Free Survival) and OS (Overall Survival). Kaplan-Meier analysis revealed that non-GTR (p = 0.0001) and the absence of radiotherapy (p < 0.0001) were predictive of shorter OS. CONCLUSION In our study, we observed that PISSs predominantly affect young males, and the prognosis of this disease is relatively poor. Our statistical analysis revealed that GTR and postoperative radiotherapy are beneficial for both PFS and OS. Therefore, we recommend GTR combined with postoperative radiotherapy as the standard treatment approach.
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Affiliation(s)
- Pengcheng Zuo
- Department of Neurosurgery, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China
| | - Bochao Zhang
- Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
| | - WanJing Zou
- Department of Neuropathology, Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
| | - Huan Li
- Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
| | - Yang Wang
- Department of Neurosurgery, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China.
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7
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Yang Z, Yu Z, Teng J, Yanzhang R, Yu Y, Zhang H, Jin G, Wang F. PDK1-mediated phosphorylation of USP5 modulates NF-κB signalling to enhance osteosarcoma growth. Int J Biol Macromol 2025; 306:141378. [PMID: 39988167 DOI: 10.1016/j.ijbiomac.2025.141378] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/03/2025] [Revised: 02/18/2025] [Accepted: 02/20/2025] [Indexed: 02/25/2025]
Abstract
The overexpression of pyruvate dehydrogenase kinase 1 (PDK1) has been observed in a number of different cancers, making it a potential target for the treatment of cancer. In this study, we used bioinformatics methods to analyse the immunophenotype of osteosarcoma (OS) and identified PDK1 as a critical factor in the different immune states of the disease. A pan-cancer analysis revealed a robust correlation between PDK1 and the tumour microenvironment. Moreover, our findings corroborate the overexpression of PDK1 in OS, whereby it facilitates tumour development via the NF-κB pathway. From a mechanistic perspective, PDK1 has the capacity to bind and phosphorylate USP5. The phosphorylation of USP5 by PDK1 activates its deubiquitinating activity, leading to the stabilisation of IKKγ protein and subsequent activation of the NF-κB signalling pathway, which ultimately promotes the growth of OS cells. Molecular simulation docking, pull-down assays, and SIP experiments were employed to further identify arctigenin (ATG) as a small molecule inhibitor of PDK1. The findings demonstrated that ATG effectively inhibited the growth of OS cells and tumour xenograft models. Collectively, these results highlight that PDK1 influences NF-κB in OS through the PDK1-USP5-IKKγ axis. Furthermore, the identification of ATG as an effective inhibitor of PDK1 suggests that ATG may serve as a promising lead compound for the treatment of OS.
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Affiliation(s)
- Zhaojie Yang
- Department of Urology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China; Laboratory of Bone Tumor, Luoyang Orthopedic Hospital of Henan Province (Orthopedic Hospital of Henan Province), Zhengzhou 450000, China
| | - Zhidan Yu
- Health Commission of Henan Province Key Laboratory for Precision Diagnosis and Treatment of Pediatric Tumor, Zhengzhou Key Laboratory of Children's Digestive Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China
| | - Junyan Teng
- Laboratory of Bone Tumor, Luoyang Orthopedic Hospital of Henan Province (Orthopedic Hospital of Henan Province), Zhengzhou 450000, China
| | - Ruoping Yanzhang
- Laboratory of Bone Tumor, Luoyang Orthopedic Hospital of Henan Province (Orthopedic Hospital of Henan Province), Zhengzhou 450000, China
| | - Yin Yu
- Laboratory of Bone Tumor, Luoyang Orthopedic Hospital of Henan Province (Orthopedic Hospital of Henan Province), Zhengzhou 450000, China
| | - Huijun Zhang
- Laboratory of Bone Tumor, Luoyang Orthopedic Hospital of Henan Province (Orthopedic Hospital of Henan Province), Zhengzhou 450000, China
| | - Guoguo Jin
- Henan Key Laboratory of Chronic Disease, Fuwai Central China Cardiovascular Hospital, Zhengzhou 450000, China.
| | - Fu Wang
- Department of Urology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China; Institute of Medical Engineering, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an 710061, China.
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8
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Morimoto LDR, Lederman HM, Macedo CRD, Amaral DT, Barbosa LDF, Guimarães JB. Alveolar Soft Part Sarcoma: Imaging Evaluation. Semin Musculoskelet Radiol 2025; 29:327-332. [PMID: 40164087 DOI: 10.1055/s-0045-1802354] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/02/2025]
Abstract
This case report concerns a 16-year-old boy who developed pain in his right thigh after a soccer game. Imaging studies revealed a pathologic transtrochanteric fracture of the right femur, accompanied by a large expansive intramuscular lesion centered in the deep planes of the adductor musculature. Main imaging findings included intense enhancement and vascularization of the lesion, along with peripheral and central flow voids, the latter described as characteristic of this subtype of soft tissue sarcoma. Alveolar soft part sarcoma is a rare and distinctive sarcoma with an indolent clinical course that typically occurs in young patients and predominantly affects the deep tissues of the lower limbs. · Soft tissue sarcomas are a rare group of malignancies, often found in the extremities. Suspicious features include larger size, deeper location, heterogeneous enhancement, and progressive growth.. · Alveolar soft part sarcoma (ASPS), a rare subtype primarily seen in children, is characterized by high T1 signal intensity, intense contrast enhancement, and more than five central and peripheral flow voids that are highly indicative of this condition.. · Magnetic resonance imaging (MRI) is the preferred modality for evaluating these lesions. Advanced MRI techniques, such as diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC), enhance diagnostic confidence, particularly in postoperative evaluations..
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Affiliation(s)
- Letícia Dos Reis Morimoto
- Department of Radiology, Pediatric Oncology Institute - GRAACC (IOP-GRAACC), São Paulo, Brazil
- Department of Radiology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil
- Department of Musculoskeletal Radiology, Fleury Medicina e Saúde, São Paulo, Brazil
| | - Henrique Manoel Lederman
- Department of Radiology, Pediatric Oncology Institute - GRAACC (IOP-GRAACC), São Paulo, Brazil
- Department of Radiology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil
| | - Carla Renata Donato Macedo
- Pediatric Oncology, Pediatric Oncology Institute - GRAACC (IOP-GRAACC), Federal University of São Paulo, São Paulo, Brazil
| | | | | | - Júlio Brandão Guimarães
- Department of Radiology, Pediatric Oncology Institute - GRAACC (IOP-GRAACC), São Paulo, Brazil
- Department of Radiology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil
- Department of Musculoskeletal Radiology, Fleury Medicina e Saúde, São Paulo, Brazil
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Kitagawa A, Nishio A, Hikita H, Kato T, Doi A, Sato K, Tahara S, Kimura Y, Ono Y, Takehara T. A rare case of a malignant hepatic perivascular epithelioid cell tumor (PEComa) with aggressive progression following the relapse of renal pecoma despite everolimus therapy. Clin J Gastroenterol 2025; 18:343-351. [PMID: 39762618 DOI: 10.1007/s12328-024-02085-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/09/2024] [Accepted: 12/08/2024] [Indexed: 02/11/2025]
Abstract
A 55-year-old man with tuberous sclerosis complex (TSC) was diagnosed with left renal angiomyolipoma (AML), a group of perivascular epithelioid cell tumors called PEComas. He had received the mTOR inhibitor everolimus, which resulted in a complete response. However, a left renal mass relapsed in two years, followed by the occurrence of a hepatic mass five months later. Renal biopsy yielded no diagnosis because of massive necrosis in the tumor cells of the left kidney; however, pathological evaluation of the hepatic mass revealed a PEComa with pleomorphic cells. Even with continuous everolimus therapy, hepatic PEComa progressed aggressively and occupied the entire liver within a year from the first detection. An autopsy revealed pleomorphic cells with nuclear atypia spreading in the liver, kidney, and lung, which were not present in the renal AML sample prior to the initiation of everolimus therapy. This finding raises the possibility of a malignant transformation of the PEComa under the mTOR inhibitor therapy. While PEComas often present with benign characteristics, there are rare instances where the tumor exhibits malignant behavior. This highlights the importance of careful monitoring and long-term follow-up to ensure early detection and effective management of potential malignancies.
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Affiliation(s)
- Ayaka Kitagawa
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Akira Nishio
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Hayato Hikita
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Taigo Kato
- Department of Urology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Akira Doi
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Katsuhiko Sato
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Shinichiro Tahara
- Department of Pathology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Yasushi Kimura
- Department of High Precision Image-Guided Percutaneous Intervention, Osaka University Graduate School of Medicine, Suita, Japan
| | - Yusuke Ono
- Department of Diagnostic and Interventional Radiology, Osaka University Graduate School of Medicine, Suita, Japan
| | - Tetsuo Takehara
- Department of Gastroenterology and Hepatology, Osaka University Graduate School of Medicine, Suita, Japan.
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10
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Adetunji MO, Sheth NT, Lee IT, Smith ET, Houk JL, Woodward JA, Cummings TJ, Dermarkarian CR. Hybrid neurofibroma-schwannoma of the orbit: a case report and review of the literature. Orbit 2025:1-6. [PMID: 40094384 DOI: 10.1080/01676830.2025.2475828] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2024] [Accepted: 02/27/2025] [Indexed: 03/19/2025]
Abstract
Hybrid peripheral nerve sheath tumor is a rare tumor subtype that infrequently occurs within the orbit. A 50-year-old male presented with a 6-year history of worsening left-sided proptosis and hypoglobus. Magnetic resonance imaging of the orbits revealed a left superior extraconal, muti-lobulated orbital lesion with extension into the left orbital apex originating from the left frontal nerve. The patient underwent surgical resection of the mass via a left orbito-cranial approach. Histopathologic examination was positive for orbital hybrid neurofibroma-schwannoma. Postoperatively, the patient had improvement in proptosis, resolution of symptoms, and improved cosmesis. This case represents the eleventh reported occurrence of orbital hybrid neurofibroma-schwannoma.
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Affiliation(s)
- Modupe O Adetunji
- Department of Ophthalmology, Duke University Medical Center, Durham, USA
| | - Nishita T Sheth
- School of Medicine, University of North Carolina, Chapel Hill, USA
| | - Irene T Lee
- Department of Ophthalmology, Duke University Medical Center, Durham, USA
| | - Emily T Smith
- Department of Pathology, Duke University Medical Center, Durham, USA
| | - Jessica L Houk
- Department of Radiology, Duke University Medical Center, Durham, USA
| | - Julie A Woodward
- Department of Ophthalmology, Duke University Medical Center, Durham, USA
| | - Thomas J Cummings
- Department of Pathology, Duke University Medical Center, Durham, USA
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11
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Chua HB, Hussain RI, Shukor NA, Fam XI. Case Report: an extremely rare case of giant dedifferentiated retroperitoneal liposarcoma. Front Oncol 2025; 15:1489833. [PMID: 40165894 PMCID: PMC11955609 DOI: 10.3389/fonc.2025.1489833] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/02/2024] [Accepted: 01/21/2025] [Indexed: 04/02/2025] Open
Abstract
Retroperitoneal liposarcoma, especially dedifferentiated liposarcoma (DDL), is a rare tumor type primarily affecting middle-aged and older adults in the retroperitoneum or proximal extremities. This case report highlights an exceptionally large retroperitoneal DDL that had enveloped the entire right kidney and had adhered to nearby tissues. Diagnosing retroperitoneal liposarcoma is challenging due to its asymptomatic nature until it reaches a substantial size. Imaging, particularly contrast-enhanced computed tomography (CECT), play a vital role in diagnosis, staging, and preoperative planning. Surgical resection, with the goal of R0 resection, remains the cornerstone of treatment, albeit this can be challenging due to tumor location. First-line treatment for advanced DDL involves anthracycline-based therapy. Eribulin and pazopanib show promise in second-line treatment. Ongoing clinical trials suggest a shift towards multimodal therapy. This case report reports the largest retroperitoneal liposarcoma and underscores the complexity of managing retroperitoneal DDL.
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Affiliation(s)
- Huey Bing Chua
- Urology Unit, Department of Surgery, Hospital Canselor Tuanku Muhriz, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia
| | - Rizuana Iqbal Hussain
- Department of Radiology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia
| | - Nordashima Abd Shukor
- Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia
| | - Xeng Inn Fam
- Urology Unit, Department of Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia
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Remiszewski P, Gaik W, Skora A, Wąż J, Filipek K, Pisklak A, Dudzisz-Śledź M, Rutkowski P, Czarnecka A. Selinexor in the treatment of liposarcoma: from preclinical evidence to clinical practice. Med Oncol 2025; 42:94. [PMID: 40056309 DOI: 10.1007/s12032-025-02651-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/08/2024] [Accepted: 02/24/2025] [Indexed: 03/10/2025]
Abstract
Selinexor is a new compound studied for the treatment of liposarcoma, particularly dedifferentiated liposarcoma (DDLPS), where treatment options remain limited. As a first-in-class oral exportin-1 (XPO1) inhibitor, selinexor has shown anti-tumour activity in preclinical models, particularly in MDM2- and CDK4-amplified DDLPS, where it induces apoptosis, inhibits tumour growth and promotes nuclear retention of p53. Preclinical studies have also suggested potential synergy with doxorubicin and eribulin, although these findings have yet to be validated in randomised clinical trials. The phase II/III SEAL trial (NCT02606461) evaluated selinexor versus placebo in patients with advanced, previously treated DDLPS. While the study demonstrated a statistically significant, albeit modest, improvement in median progression-free survival (PFS) from 2.1 to 2.8 months, no overall survival benefit was observed. In addition, selinexor was associated with significant toxicity, including fatigue, nausea and weight loss. Similarly, a phase Ib/II study (NCT03042819) evaluating selinexor in combination with doxorubicin reported a 21% response rate and a median PFS of 5.5 months, although this regimen was also associated with high rates of neutropenia and fatigue. Despite these results, selinexor is not currently approved for the treatment of liposarcoma and its clinical utility remains under investigation. Ongoing studies, such as the SeliSarc trial (NCT04595994) evaluating selinexor in combination with gemcitabine and the NRSTS2021 trial (NCT06239272) evaluating selinexor in paediatric soft tissue sarcoma, aim to further define its role. The results of these studies will be critical in determining whether selinexor can be incorporated into standard sarcoma treatment.
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Affiliation(s)
- Piotr Remiszewski
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
- Medical Faculty, Medical University of Warsaw, Warsaw, Poland
| | - Wiktor Gaik
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
- Medical Faculty, Medical University of Warsaw, Warsaw, Poland
| | - Aleksandra Skora
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
- Medical Faculty, Medical University of Warsaw, Warsaw, Poland
| | - Julia Wąż
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
- Medical Faculty, Medical University of Wroclaw, Wroclaw, Poland
| | - Kinga Filipek
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
- Regional Speciality Hospital in Miedzylesie, 04-749, Warsaw, Poland
| | - Agata Pisklak
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
- Regional Speciality Hospital in Miedzylesie, 04-749, Warsaw, Poland
| | - Monika Dudzisz-Śledź
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
| | - Piotr Rutkowski
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
| | - Anna Czarnecka
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
- Outpatient Chemotherapy Department, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
- Department of Experimental Pharmacology, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.
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13
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Tajammul SS, Mohammed K, Al Farii H, Shalaby A, Munir J, Al-Amri I, Alfishawy M, Al Mandhari Z. Synovial Sarcoma of the Hand: A Case Report and Literature Review on a Significant Challenge in Treatment. Cureus 2025; 17:e79898. [PMID: 40171344 PMCID: PMC11961022 DOI: 10.7759/cureus.79898] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/01/2025] [Indexed: 04/03/2025] Open
Abstract
Soft tissue sarcomas (STS) of the hand are extremely uncommon, with synovial sarcomas being even rarer. Despite their small size at presentation, hand sarcomas can indeed be aggressive and may result in significant morbidity and mortality if not effectively managed. A considerable proportion of these tumors are treated by unplanned excision before referral to a specialist oncological center. Additionally, hand sarcomas can mimic benign lesions, leading to misinterpretation and delayed diagnosis. To address these challenges, it is essential to thoroughly investigate all atypical soft tissue masses arising in the hand. Surgery is indeed considered the primary treatment for STS of the hand. However, achieving wide surgical margins can be particularly challenging in this area due to the intricate anatomy and proximity of tumors to vital structures within the hand. Adjuvant radiotherapy plays a crucial role in achieving local tumor control by targeting microscopic tumor cells near the surgical bed. This approach allows for a planned close margin excision along critical structures, which is essential for reducing the risk of tumor recurrence while preserving hand function. The role of adjuvant chemotherapy for synovial sarcoma of the hand is controversial and still a matter of intense debate. Distant metastasis and local recurrence are common in synovial sarcoma cases. They mostly metastasize to the lungs, followed by lymph nodes, bones, and the liver. Multidisciplinary discussions involving surgeons, medical oncologists, radiation oncologists, and other specialists are crucial in making informed decisions about the most appropriate treatment approach for each individual patient with STS of the hand. This collaborative approach ensures that the chosen treatment plan optimizes both oncological outcomes and the patient's overall quality of life.
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Affiliation(s)
- Syeda Sara Tajammul
- Radiation Oncology, Sultan Qaboos Comprehensive Cancer Care and Research Centre (SQCCCRC), Muscat, OMN
- Radiation Oncology, University Medical City, Muscat, OMN
| | - Khadiga Mohammed
- Radiation Oncology, Sultan Qaboos Comprehensive Cancer Care and Research Centre (SQCCCRC), Muscat, OMN
- Radiation Oncology, University Medical City, Muscat, OMN
| | - Humaid Al Farii
- Orthopedics, Sultan Qaboos University Hospital, Muscat, OMN
- Orthopedics, University Medical City, Muscat, OMN
| | - Asem Shalaby
- Pathology, Sultan Qaboos University Hospital, Muscat, OMN
- Pathology, University Medical City, Muscat, OMN
- Pathology, College of Medicine, Mansoura University, Mansoura, EGY
| | - Javeria Munir
- Radiology, Sultan Qaboos Comprehensive Cancer Care and Research Centre (SQCCCRC), Muscat, OMN
- Radiology, University Medical City, Muscat, OMN
| | - Iqbal Al-Amri
- Radiation Oncology, Sultan Qaboos Comprehensive Cancer Care and Research Centre (SQCCCRC), Muscat, OMN
- Radiation Oncology, University Medical City, Muscat, OMN
| | - Mahmoud Alfishawy
- Radiation Oncology, Sultan Qaboos Comprehensive Cancer Care and Research Centre (SQCCCRC), Muscat, OMN
- Radiation Oncology, University Medical City, Muscat, OMN
| | - Zahid Al Mandhari
- Radiation Oncology, Sultan Qaboos Comprehensive Cancer Care and Research Centre (SQCCCRC), Muscat, OMN
- Radiation Oncology, University Medical City, Muscat, OMN
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14
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Roky AH, Islam MM, Ahasan AMF, Mostaq MS, Mahmud MZ, Amin MN, Mahmud MA. Overview of skin cancer types and prevalence rates across continents. CANCER PATHOGENESIS AND THERAPY 2025; 3:89-100. [PMID: 40182119 PMCID: PMC11963195 DOI: 10.1016/j.cpt.2024.08.002] [Citation(s) in RCA: 4] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 03/04/2024] [Revised: 08/01/2024] [Accepted: 08/04/2024] [Indexed: 04/05/2025]
Abstract
Skin cancer is one of the most prevalent cancers in the world, and its incidence and mortality rates are increasing continuously, mostly in regions with white-skinned inhabitants. The types of skin cancer vary in their origin and clinical appearances and also differ in their extensiveness. The continents of the world have different scenarios of skin cancer prevalence. This review aims to explore the different types of skin cancer, their clinical features, and their worldwide prevalence based on the literature. Literature from different electronic databases, including Google Scholar, ResearchGate, PubMed, Scopus, Web of Science, Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Elsevier, and Springer, were collected through a literature search using specific keywords such as "skin cancer", "skin cancer types", "melanoma", "non-melanoma", "skin cancer continental prevalence" or similar keywords. The search included English publications from 2000 to 2024. Melanoma skin cancer (MSC) ranks 17th in global prevalence, with the highest incidence and deaths occurring in Europe, However, Australia and New Zealand record the highest incidence and mortality rates. Asia has a lower incidence rate of melanoma, but a higher mortality rate. Superficial spreading melanoma (SSM) is the most common type of MSC. Non-melanoma skin cancers (NMSCs) have the highest incidence in North America, with the highest number of deaths occurring in Asia, Australia and New Zealand have the highest incidence rates for basal cell carcinoma (BCC). BCC is the most commonly diagnosed skin cancer worldwide and the most prevalent form of NMSCs; however, squamous cell carcinoma is the most aggressive form of NMSCs, causing more deaths. NMSCs are the most prevalent cancers worldwide, causing most skin cancer-related deaths. The prevalence of skin cancer rising globally, with several continents experiencing higher incidence and mortality rates. The types and subtypes of skin cancer are becoming more common among clinically diagnosed cancers. This review comprehensively describes skin cancer types and their prevalence worldwide. However, the actual prevalence of skin cancer in these countries should be investigated. Further research on the prevalence of skin cancer across different continents is required to develop more effective cancer management strategies and control the spread of the disease.
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Affiliation(s)
- Amdad Hossain Roky
- Department of Pharmacy, International Islamic University Chittagong, Chattogram 4318, Bangladesh
- Pratyasha Health Biomedical Research Center, Dhaka 1230, Bangladesh
| | - Mohammed Murshedul Islam
- Pratyasha Health Biomedical Research Center, Dhaka 1230, Bangladesh
- Department of Pharmacy, Daffodil International University, Dhaka 1216, Bangladesh
| | - Abu Mohammed Fuad Ahasan
- Department of Pharmacy, International Islamic University Chittagong, Chattogram 4318, Bangladesh
- Pratyasha Health Biomedical Research Center, Dhaka 1230, Bangladesh
| | - Md Saqline Mostaq
- School of Basic Pharmaceutical and Toxicological Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA 71209-0497, USA
| | | | - Mohammad Nurul Amin
- Pratyasha Health Biomedical Research Center, Dhaka 1230, Bangladesh
- School of Basic Pharmaceutical and Toxicological Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA 71209-0497, USA
| | - Md Ashiq Mahmud
- School of Basic Pharmaceutical and Toxicological Sciences, College of Pharmacy, University of Louisiana at Monroe, Monroe, LA 71209-0497, USA
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15
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Cazzato G, Piscazzi F, Filosa A, Colagrande A, Del Fiore P, Ambrogio F, Battilotti C, Danese A, Federico S, Cassalia F. Clear Cell Sarcoma (CCS) of the Soft Tissue: An Update Narrative Review with Emphasis on the Utility of PRAME in Differential Diagnosis. J Clin Med 2025; 14:1233. [PMID: 40004764 PMCID: PMC11856724 DOI: 10.3390/jcm14041233] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/04/2025] [Revised: 02/07/2025] [Accepted: 02/10/2025] [Indexed: 02/27/2025] Open
Abstract
Clear Cell Sarcoma (CCS) of soft tissue is a rare and highly malignant neoplasm primarily affecting young adults, often presenting in the deep soft tissues of the extremities. Despite morphological and immunophenotypic similarities to melanoma, CCS arises from connective tissues and is characterized by a distinct genetic hallmark: the EWSR1-ATF1 fusion resulting from t(12;22)(q13;q12) translocation. This genetic signature is absent in melanoma, making molecular diagnosis essential for accurate differentiation. Additionally, recent evidence highlights the utility of PRAME as an immunohistochemical marker to distinguish CCS from melanoma and other neoplasms. Clinically, CCS commonly involves tendons and aponeuroses, with metastatic potential leading to poor prognoses despite optimal local disease management. Histologically, CCS features lobular growth, spindle-to-epithelioid cells with clear cytoplasm, and low mitotic activity, often necessitating a multimodal diagnostic approach incorporating histopathology, immunohistochemistry, and molecular testing. Therapeutically, wide surgical excision remains the cornerstone for localized disease, with sentinel lymph node biopsy aiding in staging. Adjuvant radiotherapy is considered in select cases, while chemotherapy has limited efficacy in metastatic settings. Emerging treatments, including targeted therapies focusing on EWSR1-ATF1-driven pathways and immune checkpoint inhibitors, offer hope for improved outcomes. This review synthesizes current knowledge on CCS, emphasizing diagnostic challenges, the role of PRAME, and advancements in therapeutic strategies to enhance patient care.
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Affiliation(s)
- Gerardo Cazzato
- Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari “Aldo Moro”, 70124 Bari, Italy;
| | - Francesco Piscazzi
- Dermatology Unit, IRCSS Humanitas Research Hospital, 20089 Rozzano, Italy;
- Department of Biomedical Sciences, Humanitas University, 20072 Pieve Emanuele, Italy
| | - Alessandra Filosa
- Pathology Department, “A. Murri” Hospital-ASUR Marche, Aree Vaste n. 4 and 5, 63900 Fermo, Italy;
| | - Anna Colagrande
- Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari “Aldo Moro”, 70124 Bari, Italy;
| | - Paolo Del Fiore
- Soft Tissue, Peritoneum and Melanoma Surgical Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, 35128 Padua, Italy;
| | - Francesca Ambrogio
- Section of Dermatology and Venereology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari “Aldo Moro”, 70124 Bari, Italy;
| | - Chiara Battilotti
- Unit of Dermatology, Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University, 00185 Rome, Italy;
| | - Andrea Danese
- Section of Dermatology and Venerology, Department of Medicine, University of Verona, 37129 Verona, Italy;
| | - Serena Federico
- Unit of Dermatology, Department of Health Sciences, Magna Grecia University, 88100 Catanzaro, Italy;
| | - Fortunato Cassalia
- Dermatology Unit, Department of Medicine (DIMED), University of Padua, 35121 Padua, Italy;
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16
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Moran LM, Li Cai CY, Ramirez A, Royuela A. Differentiation of Atypical Lipomatous Tumors from Lipomas: Our Experience with Visual Analysis of Conventional Magnetic Resonance Imaging. J Imaging 2025; 11:47. [PMID: 39997549 PMCID: PMC11856569 DOI: 10.3390/jimaging11020047] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2025] [Revised: 01/26/2025] [Accepted: 02/05/2025] [Indexed: 02/26/2025] Open
Abstract
Differentiating atypical lipomatous tumors (ALTs) from lipomas using imaging techniques is a challenge, and the biopsy with immunohistochemical determination of murine double minute 2 (MDM2) oncogene is the gold standard. We are looking for a management algorithm with the visual analysis of magnetic resonance images in these two fatty soft tissue tumors that allow us to avoid some biopsies. Two radiologists, blinded to the final diagnosis, independently assessed various features on conventional magnetic resonance imaging (MRI), in 79 patients with pathologically confirmed fatty tumors as either lipoma (MDM2 negative) or ALT (MDM2 positive). Results: The interobserver agreement for the most MRI features was moderate and the musculoskeletal radiologist accuracy for final diagnosis was 90% sensitivity and 66% specificity. Tumors with homogeneous fat signals and a maximum size < 8 cm were always lipomas (p < 0.001), and the tumors with septa thickness ≥ 2 mm, or more than one non-fat nodule, and a maximum size ≥ 12.8 cm were typically ALTs. While those tumors with septa < 2 mm or one non-fat nodule, independently of maximum size, the diagnosis of lipoma versus ALT is uncertain and a biopsy is required.
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Affiliation(s)
- Luz Maria Moran
- Department of Radiology, Hospital Universitario Puerta de Hierro Majadahonda, 28222 Madrid, Spain;
| | - Chao Yuan Li Cai
- Department of Medicine, Faculty of Medicine, Universidad Autonoma Madrid, 28049 Madrid, Spain;
| | - Alberto Ramirez
- Department of Radiology, Hospital Universitario Puerta de Hierro Majadahonda, 28222 Madrid, Spain;
| | - Ana Royuela
- Biostatistics Unit, Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, CIBERESP, ISCIII, 28222 Madrid, Spain;
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17
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Xing Z, Wu T, Qin L. Case report: Ultrasound and contrast-enhanced ultrasound findings of pediatric small intestinal inflammatory myofibroblastic tumor. Front Oncol 2025; 15:1512402. [PMID: 39980565 PMCID: PMC11839668 DOI: 10.3389/fonc.2025.1512402] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/16/2024] [Accepted: 01/20/2025] [Indexed: 02/22/2025] Open
Abstract
Inflammatory myofibroblastic tumors (IMTs) are uncommon mesenchymal neoplasms with malignant potential, primarily affecting children and adolescents. It usually manifests in the abdominal and pelvic regions; however, small intestinal IMT is particularly rare. This report presents the case of a 7-year-old girl who presented with a small intestinal IMT. The patient was admitted with a one-day history of abdominal pain and vomiting. Ultrasonography revealed a solid hypoechoic mass in the lower abdomen. Based on contrast-enhanced ultrasound (CEUS) findings, a preliminary diagnosis of small intestinal IMT was proposed, which was subsequently confirmed by postoperative histopathology. This case underscores the sonographic and CEUS features of small intestinal IMT in children, emphasizing that the combination of ultrasound and CEUS can improve diagnostic accuracy and preoperative evaluation in pediatric patients.
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Affiliation(s)
| | | | - Lingling Qin
- Department of Ultrasonography, Hainan General Hospital (Hainan Affiliated Hospital of
Hainan Medical University), Haikou, Hainan, China
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18
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Shkarubo AN, Adueva DS, Andreev DN, Galstyan SA, Chernov IV, Panteleyev AA. Endoscopic Transnasal Transclival Removal of a Giant Hemangiopericytoma Involving the Clivus and C1-C2 Vertebrae: A Clinical Case and Literature Review. Cureus 2025; 17:e79040. [PMID: 40099070 PMCID: PMC11912516 DOI: 10.7759/cureus.79040] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/14/2025] [Indexed: 03/19/2025] Open
Abstract
Hemangiopericytomas, or solitary fibrous tumors (SFT), are neoplasms of mesenchymal origin that are quite rare in oncological practice. These tumors often grow to large sizes before the onset of clinical symptoms, and in imaging studies, they closely resemble meningiomas, making diagnosis challenging. When treating intracranial hemangiopericytoma, it is necessary to ensure the most radical removal followed by radiation therapy. We present a rare case of transnasal transclival subtotal removal of a giant hemangiopericytoma/SFT of the craniovertebral junction and the C1-C2 vertebral level, not previously described in the literature. Based on the results of the literature review, it was determined that an accurate diagnosis during the instrumental and morphological examination is crucial for the future outcome of a patient with intracranial hemangiopericytoma, as confirmed in the presented case.
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Affiliation(s)
- Alexey N Shkarubo
- Neurooncology, Federal State Autonomous Institution, N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation, Moscow, RUS
- Medicine, Russian Medical Academy of Continuous Professional Education, Moscow, RUS
| | - Diana S Adueva
- Neurooncology, Federal State Autonomous Institution, N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation, Moscow, RUS
| | - Dmitry N Andreev
- Neurooncology, Federal State Autonomous Institution, N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation, Moscow, RUS
| | - Suzanne A Galstyan
- Pathology, Federal State Autonomous Institution, N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation, Moscow, RUS
| | - Ilya V Chernov
- Neurooncology, Federal State Autonomous Institution, N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation, Moscow, RUS
| | - Andrey A Panteleyev
- Orthopedics and Traumatology, Russian Children's Clinical Hospital, Moscow, RUS
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He J, Chen H, Liang LL, Duan Z. Misdiagnosed Primary Pulmonary Synovial Sarcoma: A Case Report Emphasizing Diagnostic Pitfalls and the Crucial Role of Molecular Testing. Cureus 2025; 17:e79256. [PMID: 40125200 PMCID: PMC11925806 DOI: 10.7759/cureus.79256] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/18/2025] [Indexed: 03/25/2025] Open
Abstract
Primary pulmonary synovial sarcoma (PPSS) is an extremely rare malignancy that presents diagnostic challenges due to its overlapping clinical features with other lung diseases. We present the case of a 53-year-old woman with a history of bronchial artery malformation and right lung organizing pneumonia, who experienced an eight-month history of intermittent cough and sputum. Despite multiple imaging studies and biopsies at different hospitals, a definitive diagnosis was not reached until a CT scan of the chest revealed an enlarged mass in the right lower lobe. The patient underwent video-assisted thoracoscopic surgery, where intraoperative findings and pathological examination confirmed a spindle cell tumor. Immunohistochemistry and next-generation sequencing then identified the presence of a gene fusion, confirming the diagnosis of PPSS. This case illustrates how PPSS can mimic other malignancies or infections and underscores the importance of advanced diagnostic techniques, such as immunohistochemistry and molecular testing, in facilitating an accurate diagnosis.
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Affiliation(s)
- Jiao He
- Department of Pathology, First Hospital of Changsha, Changsha, CHN
| | - Hui Chen
- Department of Pathology, First Hospital of Changsha, Changsha, CHN
| | - Ling Li Liang
- Department of Pathology, First Hospital of Changsha, Changsha, CHN
| | - Zhi Duan
- Department of Pathology, First Hospital of Changsha, Changsha, CHN
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20
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Zou L, Yan Z, Deng H, Liu H, Qin Y. Gastric inflammatory myofibroblastic tumor invading the esophagus and spleen: a rare case report and literature review. J Int Med Res 2025; 53:3000605251314800. [PMID: 39932269 PMCID: PMC12059443 DOI: 10.1177/03000605251314800] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2024] [Accepted: 01/06/2025] [Indexed: 05/08/2025] Open
Abstract
Inflammatory myofibroblastic tumor (IMT) is a rare neoplasm with intermediate biological potential. The stomach is an uncommon site for IMTs, and gastric IMTs are typically confined to the submucosal layer. This report presents a rare case of a 29-year-old woman with a gastric IMT located in the gastric fundus, exhibiting local invasion into the esophagus and spleen.
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Affiliation(s)
- LuoLan Zou
- Department of Gastrointestinal Surgery, Shenzhen Second People’s Hospital, Shenzhen City, Guangdong Province, China
- Shantou University Medical College, Shantou City, Guangdong Province, China
| | - ZiLing Yan
- Department of Pathology, Shenzhen Second People’s Hospital, Shenzhen City, Guangdong Province, China
- Shantou University Medical College, Shantou City, Guangdong Province, China
| | - HuaZhen Deng
- Department of Radiology, Shenzhen Second People’s Hospital, Shenzhen City, Guangdong Province, China
- Shantou University Medical College, Shantou City, Guangdong Province, China
| | - HongPeng Liu
- Department of Gastrointestinal Surgery, Shenzhen Second People’s Hospital, Shenzhen City, Guangdong Province, China
| | - Ying Qin
- Department of Gastrointestinal Surgery, Shenzhen Second People’s Hospital, Shenzhen City, Guangdong Province, China
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21
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Huang YL, Hsu CC, Huang DDR, Yang JCH, Wu SG. Identification of the molecular characterization and tumor microenvironment of thoracic inflammatory myofibroblastic tumors. J Formos Med Assoc 2025:S0929-6646(25)00040-3. [PMID: 39880703 DOI: 10.1016/j.jfma.2025.01.024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/11/2024] [Revised: 01/20/2025] [Accepted: 01/24/2025] [Indexed: 01/31/2025] Open
Abstract
BACKGROUND Inflammatory myofibroblastic tumors (IMTs), rare soft tissue neoplasms, are characterized by a blend of myofibroblastic proliferation and inflammatory features. While generally characterized by slow growth, IMTs can exhibit locally aggressive behavior, and in rare instances, metastasize to distant sites. This study elucidated the clinical characteristics, molecular profile, and tumor microenvironment of thoracic IMTs. METHODS We retrospectively analyzed cases of IMTs diagnosed at the National Taiwan University Hospital between 2000 and 2020. ALK immunohistochemistry (IHC) was performed, followed by fluorescence in situ hybridization (FISH) for confirmation. Next-generation sequencing (NGS) was employed to detect unknown oncogenic drivers, and multiplex immunofluorescence staining was used to characterize the tumor microenvironment. Demographic, clinicopathological characteristics, and treatment outcomes were systematically recorded and analyzed. RESULTS We identified a total of 8 patients with thoracic IMTs, whose median age of the participants was 33.8 years (range: 18.6-58.7). The disease status of all tumors were early-stage, and all patients underwent surgical excision. ALK fusions were detected in 6 tumors (all spindle-cell patterns), with fusion partners including 3 TPM3, 2 DCTN1, and one EML4. In the remaining 2 tumors without ALK fusion, NGS showed NTRK3 alteration with high gene expressions. Multiplex IHC of three cases identified a pronounced infiltration of macrophages cells within the tumor microenvironment. CONCLUSION Patients with thoracic IMT patients are typically young with early-stage disease. ALK fusion were the most common genetic alteration, particularly in spindle-cell patterns. Characterization of the tumor microenvironment indicates the potential of immune profiling in the tumor biology and targeted immunotherapy approaches.
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Affiliation(s)
- Yen-Lin Huang
- Department of Pathology, National Taiwan University Cancer Center, National Taiwan University, Taipei, Taiwan
| | - Chia-Chi Hsu
- Graduate Institute of Oncology, Cancer Research Center, National Taiwan University, Taipei, Taiwan; Department of Oncology, National Taiwan University Hospital, Taipei, Taiwan
| | - Derek De-Rui Huang
- Department of Oncology, National Taiwan University Hospital, Taipei, Taiwan; Department of Oncology, National Taiwan University Cancer Center, National Taiwan University, Taipei, Taiwan
| | - James Chih-Hsin Yang
- Graduate Institute of Oncology, Cancer Research Center, National Taiwan University, Taipei, Taiwan; Department of Oncology, National Taiwan University Hospital, Taipei, Taiwan; Department of Oncology, National Taiwan University Cancer Center, National Taiwan University, Taipei, Taiwan
| | - Shang-Gin Wu
- Department of Internal Medicine, National Taiwan University Cancer Center, Taipei, Taiwan; Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
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22
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Liehr T, Rincic M. Cytogenomic Characterization of Murine Cell Line Sarcoma 180 = S-180. Int J Mol Sci 2025; 26:1127. [PMID: 39940894 PMCID: PMC11817182 DOI: 10.3390/ijms26031127] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/10/2024] [Revised: 01/24/2025] [Accepted: 01/25/2025] [Indexed: 02/16/2025] Open
Abstract
The cell line Sarcoma 180, which is also called S-180 (or S180), was established about 110 years ago from a murine axillary sarcoma. It has been applied in >5000 studies but was never genetically characterized in detail; this study fills that gap. The cell line Sarcoma 180 was analyzed for its chromosomal constitution using molecular cytogenetic approaches, specifically murine multicolor banding (mcb). Additionally, array comparative genomic hybridization was performed to characterize copy number alterations. Sarcoma 180 has a near tetraploid karyotype without Y-chromosome material and only two X-chromosomes. The complex karyotype includes dicentrics and simple and complex rearrangements and shows a relatively high chromosomal instability. An in silico translation of the obtained results to the human genome indicated that Sarcoma 180 is suitable as a model for advanced human mesenchymal chondrosarcoma.
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Affiliation(s)
- Thomas Liehr
- Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, D-07747 Jena, Germany
| | - Martina Rincic
- Croatian Institute for Brain Research, School of Medicine University of Zagreb, Salata 12, 10000 Zagreb, Croatia;
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23
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Margarint IM, Youssef T, Filip C, Bizubac AM, Popescu A, Rotaru I, Untaru O, Manolache S, Iliescu VA, Vladareanu R. A Rare Case of Neonatal Desmoid Tumor Leading to Severe Aortic Coarctation: Review of Literature and Case Report. Life (Basel) 2025; 15:123. [PMID: 39860063 PMCID: PMC11766888 DOI: 10.3390/life15010123] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/19/2024] [Revised: 12/29/2024] [Accepted: 01/13/2025] [Indexed: 01/27/2025] Open
Abstract
Desmoid tumors are a rare entity, especially in the pediatric population. There are no reports of such a tumor in newborns. They are associated with high rates of morbidity and mortality, even though they are benign soft tissue tumors. This is due to them exhibiting locally aggressive growth with the compression or invasion of adjacent structures. Abdominal localization is most commonly reported, although there are reports of mediastinal desmoid tumors. We present the case of a 6-day male patient with a mediastinal desmoid tumor that led to severe aortic coarctation with hemodynamic instability. The tumor also compressed the left pulmonary artery and obstructed the left main bronchus. The initial management consisted of successful emergency surgery with partial resection of the tumor mass and coarctation repair. In the postoperative setting, the patient evolved with severe respiratory dysfunction which was managed with tracheostomy, allowing weaning the child from the mechanical ventilation one month after surgery, along with chemotherapy. We also review the literature, focusing on the management of desmoid tumors.
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Affiliation(s)
- Irina Maria Margarint
- Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania; (I.M.M.); (V.A.I.); (R.V.)
| | - Tammam Youssef
- Department of Cardiac Surgery, Emergency Clinical Hospital for Children “Maria Skłodowska Curie”, 077120 Bucharest, Romania; (A.P.); (I.R.); (O.U.)
| | - Cristina Filip
- Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania; (I.M.M.); (V.A.I.); (R.V.)
| | - Ana-Mihaela Bizubac
- “Marie S. Curie Children’s Emergency Hospital” Bucharest, Neonatal Intensive Care Unit, 20 Constantin Brancoveanu Street, District 4, 041451 Bucharest, Romania; (A.-M.B.); (S.M.)
| | - Alexandru Popescu
- Department of Cardiac Surgery, Emergency Clinical Hospital for Children “Maria Skłodowska Curie”, 077120 Bucharest, Romania; (A.P.); (I.R.); (O.U.)
| | - Iulian Rotaru
- Department of Cardiac Surgery, Emergency Clinical Hospital for Children “Maria Skłodowska Curie”, 077120 Bucharest, Romania; (A.P.); (I.R.); (O.U.)
| | - Olguta Untaru
- Department of Cardiac Surgery, Emergency Clinical Hospital for Children “Maria Skłodowska Curie”, 077120 Bucharest, Romania; (A.P.); (I.R.); (O.U.)
| | - Stefan Manolache
- “Marie S. Curie Children’s Emergency Hospital” Bucharest, Neonatal Intensive Care Unit, 20 Constantin Brancoveanu Street, District 4, 041451 Bucharest, Romania; (A.-M.B.); (S.M.)
| | - Vlad Anton Iliescu
- Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania; (I.M.M.); (V.A.I.); (R.V.)
| | - Radu Vladareanu
- Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania; (I.M.M.); (V.A.I.); (R.V.)
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24
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Zhao J, Du W, Tao X, Li A, Li Y, Zhang S. Survival and prognostic factors among different types of liposarcomas based on SEER database. Sci Rep 2025; 15:1790. [PMID: 39805922 PMCID: PMC11729850 DOI: 10.1038/s41598-025-85937-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/08/2024] [Accepted: 01/07/2025] [Indexed: 01/16/2025] Open
Abstract
The aim of this study is to elucidate the disparities in survival and risk factors among different subtypes of liposarcoma, through analysis of epidemiological and prognostic data. The study cohort consisted of 12,822 patients diagnosed with liposarcoma in the United States between 2000 and 2021, whose data were retrieved from the Surveillance, Epidemiology, and End Results (SEER) program. The prognosis for different subtypes of liposarcoma and the associated factors such as age, tumor stage, intervention, gender, tumor grade, location, size, chemotherapy and radiotherapy, were retrieved from the database. Well-differentiated liposarcoma demonstrated the most favorable prognosis, with 5-year and 10-year survival rates of 82% and 68%, respectively, followed by myxoid liposarcoma, pleomorphic liposarcoma and dedifferentiated liposarcoma, which exhibited the poorest prognosis. Advanced age, higher tumor stage, and the absence of surgical intervention were associated with inferior survival outcomes across all subtypes. Male gender, higher pathological grade, and primary tumor sites outside the extremities were identified as risk factors for the prognosis of subtypes other than pleomorphic liposarcoma. Larger tumor size was an indicator of a worse prognosis in subtypes other than well-differentiated liposarcoma. Chemotherapy was a risk factor for the prognosis of well-differentiated and myxoid liposarcomas but had no significant correlation with the prognosis of pleomorphic and dedifferentiated liposarcomas. Radiotherapy served as a protective factor for the prognosis of subtypes other than well-differentiated liposarcoma. Survival and prognostic factors vary among the major subtypes of liposarcoma, necessitating individualized analysis for each subtype. Poorer outcomes can be anticipated in the dedifferentiated and pleomorphic subtypes, while well-differentiated and myxoid liposarcomas exhibit relatively favorable prognoses.
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Affiliation(s)
- Jiaqi Zhao
- Orthopedics Department, The First Affiliated Hospital of Army Medical University, Chongqing, China
| | - WenLi Du
- Emergency Department, Affiliated Hospital of Southwest Medical University, Sichuan Province, Luzhou City, China
| | - XiaoLiang Tao
- Orthopedics Department, The First Affiliated Hospital of Army Medical University, Chongqing, China
| | - AiAi Li
- Orthopedics Department, The First Affiliated Hospital of Army Medical University, Chongqing, China
| | - Yi Li
- Orthopedics Department, The First Affiliated Hospital of Army Medical University, Chongqing, China
| | - Shuai Zhang
- Orthopedics Department, The First Affiliated Hospital of Army Medical University, Chongqing, China.
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25
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Valenzuela RF, Duran Sierra EDJ, Canjirathinkal MA, Amini B, Hwang KP, Ma J, Torres KE, Stafford RJ, Wang WL, Benjamin RS, Bishop AJ, Madewell JE, Murphy WA, Costelloe CM. Novel Use and Value of Contrast-Enhanced Susceptibility-Weighted Imaging Morphologic and Radiomic Features in Predicting Extremity Soft Tissue Undifferentiated Pleomorphic Sarcoma Treatment Response. JCO Clin Cancer Inform 2025; 9:e2400042. [PMID: 39841956 DOI: 10.1200/cci.24.00042] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/29/2024] [Revised: 09/27/2024] [Accepted: 12/10/2024] [Indexed: 01/24/2025] Open
Abstract
PURPOSE Undifferentiated pleomorphic sarcomas (UPSs) demonstrate therapy-induced hemosiderin deposition, granulation tissue formation, fibrosis, and calcification. We aimed to determine the treatment-assessment value of morphologic tumoral hemorrhage patterns and first- and high-order radiomic features extracted from contrast-enhanced susceptibility-weighted imaging (CE-SWI). MATERIALS AND METHODS This retrospective institutional review board-authorized study included 33 patients with extremity UPS with magnetic resonance imaging and resection performed from February 2021 to May 2023. Volumetric tumor segmentation was obtained at baseline, postsystemic chemotherapy (PC), and postradiation therapy (PRT). The pathology-assessed treatment effect (PATE) in surgical specimens separated patients into responders (R; ≥90%, n = 16), partial responders (PR; 89%-31%, n = 10), and nonresponders (NR; ≤30%, n = 7). RECIST, WHO, and volume were assessed for all time points. CE-SWI T2* morphologic patterns and 107 radiomic features were analyzed. RESULTS A Complete-Ring (CR) pattern was observed in PRT in 71.4% of R (P = 7.71 × 10-6), an Incomplete-Ring pattern in 33.3% of PR (P = .2751), and a Globular pattern in 50% of NR (P = .1562). The first-order radiomic analysis from the CE-SWI intensity histogram outlined the values of the 10th and 90th percentiles and their skewness. R showed a 280% increase in 10th percentile voxels (P = .061) and a 241% increase in skewness (P = .0449) at PC. PR/NR showed a 690% increase in the 90th percentile voxels (P = .03) at PC. Multiple high-order radiomic texture features observed at PRT discriminated better R versus PR/NR than the first-order features. CONCLUSION CE-SWI morphologic patterns strongly correlate with PATE. The CR morphology pattern was the most frequent in R and had the highest statistical association predicting response at PRT, easily recognized by a radiologist not requiring postprocessing software. It can potentially outperform size-based metrics, such as RECIST. The first- and high-order radiomic analysis found several features separating R versus PR/NR.
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Affiliation(s)
| | | | | | - Behrang Amini
- University of Texas MD Anderson Cancer Center, Houston, TX
| | - Ken-Pin Hwang
- University of Texas MD Anderson Cancer Center, Houston, TX
| | - Jingfei Ma
- University of Texas MD Anderson Cancer Center, Houston, TX
| | - Keila E Torres
- University of Texas MD Anderson Cancer Center, Houston, TX
| | | | - Wei-Lien Wang
- University of Texas MD Anderson Cancer Center, Houston, TX
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26
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Si X, Wu S, Feng R, Wang M, Wang H, Zhang X, Zhang L, Xu K. Clinicopathological Characteristics of Inflammatory Myofibroblastic Tumor: A Single Center Retrospective Cohort Study. Thorac Cancer 2025; 16:e15496. [PMID: 39592917 PMCID: PMC11729751 DOI: 10.1111/1759-7714.15496] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/16/2024] [Revised: 10/11/2024] [Accepted: 11/11/2024] [Indexed: 11/28/2024] Open
Abstract
BACKGROUND Inflammatory myofibroblastic tumor (IMT) is a rare intermediate-grade neoplasm. It presents a great challenge in diagnosis and treatment. This study aims to identify the clinicopathological characteristics of IMT. METHODS A retrospective study was conducted, enrolling patients with IMT at Peking Union Medical College Hospital from January 2013 to October 2023. Clinical information, treatments, and efficacy were analyzed. RESULTS A total of 72 patients were enrolled, including 38 men and 34 women, with a median age of 46.5 years. The most common primary site included the lung (n = 15, 20.8%), intestinal tract (n = 8, 11.1%), abdominal cavity (n = 7, 9.7%), and nasal sinus (n = 5, 6.9%). Thirty patients harbored anaplastic lymphoma kinase (ALK) fusion genes; Sixty-five (90.3%) patients underwent surgical resection, and 11 of them had postoperative recurrence. Thirty patients received systemic therapy, including nonsteroidal anti-inflammatory drugs (n = 1), steroids (n = 5), chemotherapy (n = 7), targeted therapy (n = 2), and immune checkpoint inhibitor (n = 1). CONCLUSIONS The most common site of IMT is the lung. Surgery is the main treatment for IMT, and postoperative adjuvant therapy for ALK-positive patients needs to be focused. The molecular testing is essential for all patients diagnosed with IMTs. Systemic treatment needs further research.
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Affiliation(s)
- Xiaoyan Si
- Department of Pulmonary and Critical Care MedicinePeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
| | - Shafei Wu
- Department of PathologyPeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
| | - Ruie Feng
- Department of PathologyPeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
| | - Mengzhao Wang
- Department of Pulmonary and Critical Care MedicinePeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
| | - Hanping Wang
- Department of Pulmonary and Critical Care MedicinePeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
| | - Xiaotong Zhang
- Department of Pulmonary and Critical Care MedicinePeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
| | - Li Zhang
- Department of Pulmonary and Critical Care MedicinePeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
| | - Kaifeng Xu
- Department of Pulmonary and Critical Care MedicinePeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina
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27
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Kobayashi K, Ogawa Y, Bessho R, Tanaka H, Sasaki R. Achieving a Good Response in Myxofibrosarcoma With Uncontrollable Bleeding Using an Enzyme-Targeting Radiosensitization Treatment: A Case Report. Cureus 2025; 17:e77800. [PMID: 39991348 PMCID: PMC11843065 DOI: 10.7759/cureus.77800] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/18/2025] [Indexed: 02/25/2025] Open
Abstract
Myxofibrosarcoma is one of the most prevalent histological types of primary malignant soft tissue tumors of the extremity. Radiation therapy is frequently employed as a post-operative treatment. In this case report, we present a 78-year-old male with a large tumor on his forearm. He refused surgical treatment. Over a period of seven years, recurrence and bleeding were repeatedly observed. Kochi oxydol radiation therapy for unresectable carcinomas (KORTUC) is a treatment modality that uses a hydrogen peroxide solution that adheres to the tumor surface (KORUTC I), while the solution is also injected into the tumor (KORTUC II). We treated the tumor with KORTUC I and II. A good response was observed. This case report highlights the effectiveness of KORTUC I and II. Reports on KORTUC for sarcomas are limited, underscoring the necessity for future examination of cases not indicated for surgical intervention.
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Affiliation(s)
- Kana Kobayashi
- Division of Radiation Oncology, Kobe University Hospital, Kobe, JPN
| | | | | | - Hironori Tanaka
- Division of Radiation Oncology, Kobe University Hospital, Kobe, JPN
| | - Ryohei Sasaki
- Division of Radiation Oncology, Kobe University Hospital, Kobe, JPN
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Chen Y, Guo Y, Li S, Xu J, Zhao C, Wang J, Yang J, Ning W, Qu Y, Zhang M, Wang S, Zhang H. Tumor-derived IL-6 promotes chordoma invasion by stimulating tumor-associated macrophages M2 polarization and TNFα secretion. Int Immunopharmacol 2024; 143:113315. [PMID: 39393273 DOI: 10.1016/j.intimp.2024.113315] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/29/2024] [Revised: 09/04/2024] [Accepted: 10/01/2024] [Indexed: 10/13/2024]
Abstract
AIMS Chordoma is a rare and aggressive bone tumor with high-recurrence and lack of effective treatment methods. Tumor associated macrophages (TAMs) are abundant in tumor microenvironment (TME) and polarize toward M2 in chordoma. It has been observed that the high proportion of M2 cells is associated with chordoma rapid progression. However, the mechanism of TAMs polarization and promotion to tumor progression in chordoma is still unclear. The is an urgent need for further research. MATERIALS AND METHODS Flow cytometry and immunohistochemical staining was used to detect the degree of macrophages infiltration in chordoma. A co-culture model of chordoma cells and macrophages was established in vitro to investigate the effects of their interaction on cell function, cytokine secretion, and RNA transcriptome expression. KEY FINDINGS In this study, we found M2 macrophage was predominantly abundant immune cell population in chordoma, and its proportion was associated with the degree of bone destruction. We demonstrated that interleukin 6 (IL-6) derived from chordoma cells could induce TAMs polarization by activating STAT3 phosphorylation, and TAMs could enhance chordoma cells migration and invasion through TNFα/NF-κB pathway. The interaction of chordoma cells and TAMs could promote the bone destruction-related factor Cathepsin B (CTSB) and inhibitory immune checkpoints expression. We also confirmed blocking IL-6/STAT3 pathway could significantly attenuate the M2 polarization of TAMs and decrease the secretion of TNFα. SIGNIFICANCE This study illustrates the dynamics between chordoma cells and TAMs in promoting chordoma invasion and suggests that IL-6/STAT3 pathway is a potential therapeutic target to reduce TAM-induced chordoma invasion.
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Affiliation(s)
- Yujia Chen
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Yuduo Guo
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Shenglun Li
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Jiacheng Xu
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Chao Zhao
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Jun Wang
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Jingjing Yang
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Weihai Ning
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Yanming Qu
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Mingshan Zhang
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China
| | - Shengdian Wang
- CAS Key Laboratory of Infection and Immunity, Institute of Biophysics, Chinese Academy of Sciences, 100101 Beijing, China.
| | - Hongwei Zhang
- Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China.
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29
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Batou Y, Aissaoui TE, Farhaoui AE, Zeryouh B, Lachkar A, Zouaidia F, Abdeljaouad N, Yacoubi H. A rare case of inflammatory myofibroblastic tumour of the thigh : A case report and literature review. Radiol Case Rep 2024; 19:6528-6533. [PMID: 39391027 PMCID: PMC11465054 DOI: 10.1016/j.radcr.2024.09.066] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2024] [Revised: 09/11/2024] [Accepted: 09/13/2024] [Indexed: 10/12/2024] Open
Abstract
Towards the beginning of the twentieth century, inflammatory myofibroblastic tumors were described as neoplasms characterized by myofibroblastic spindle cells with an infiltrate of inflammatory cells. These rare tumors occur mainly in children and young adults with a preferential pulmonary and abdominal location. They have intermediate biological potency with a tendency to local recurrence and rarely metastasize. We describe the case of an adolescent who presented with an inflammatory myofibroblastic tumor of the thigh, a very rare entity that has only been reported in the literature as case reports, and its clinical, radiological, echographic and MRI appearance. The patient underwent complete surgical resection of the mass with healthy margins and did not receive any additional treatment. No sign of recurrence was detected after 6 months of follow-up.
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Affiliation(s)
- Yassine Batou
- Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco
- Department of Traumatology, orthopedic Mohammed VI University Hospital Mohammed I University, Oujda, Morocco
| | - Taha El Aissaoui
- Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco
- Department of Traumatology, orthopedic Mohammed VI University Hospital Mohammed I University, Oujda, Morocco
| | - Amine El Farhaoui
- Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco
- Department of Traumatology, orthopedic Mohammed VI University Hospital Mohammed I University, Oujda, Morocco
| | - Brahim Zeryouh
- Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco
- Department of Traumatology, orthopedic Mohammed VI University Hospital Mohammed I University, Oujda, Morocco
| | - Adnane Lachkar
- Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco
- Department of Traumatology, orthopedic Mohammed VI University Hospital Mohammed I University, Oujda, Morocco
| | - Fouad Zouaidia
- Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco
- Department of Pathological Anatomy, Ibn Sina University Hospital, Mohammed V University Rabat, Morocco
| | - Najib Abdeljaouad
- Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco
- Department of Traumatology, orthopedic Mohammed VI University Hospital Mohammed I University, Oujda, Morocco
| | - Hicham Yacoubi
- Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, Morocco
- Department of Traumatology, orthopedic Mohammed VI University Hospital Mohammed I University, Oujda, Morocco
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30
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Vincenzi B, Olimpieri PP, Celant S, Mazzocca A, Cortellini A, Comandone A, Tomassini L, Di Segni S, Russo P, Casali PG. Pazopanib in the real-world setting in soft tissue sarcomas: data from the Italian national registry. ESMO Open 2024; 9:103995. [PMID: 39608303 PMCID: PMC11635658 DOI: 10.1016/j.esmoop.2024.103995] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/07/2024] [Revised: 10/25/2024] [Accepted: 10/28/2024] [Indexed: 11/30/2024] Open
Abstract
BACKGROUND Pazopanib is part of the therapeutic armamentarium for the treatment of patients with advanced non-adipocytic soft tissue sarcomas (STS) who have received prior chemotherapy, but its optimal use in STS histologies is still left to be further defined. DESIGN AND METHODS Data on STS patients treated with pazopanib in Italy have been prospectively collected from July 2013 to December 2019 through a drug monitoring registry managed by the Italian Medicines Agency (AIFA). This nationwide observational cohort study included patients with advanced STS who received pazopanib. Clinicians were mandatorily requested to fill in the AIFA monitoring registry in order to prescribe pazopanib. Patients were recorded on the basis of their clinical characteristics, histological subtype captured at the time of treatment start, and clinical outcome. Primary outcome was time to treatment discontinuation (TTD). Secondary outcomes recorded were frequency of dose reduction and time to first dose reduction. RESULTS We analyzed data from 1964 sarcoma patients. The most represented histological subtypes were leiomyosarcoma (44.7%), undifferentiated sarcomas/not otherwise specified (11.5%), and synovial sarcoma (8.1%). Overall, the median TTD was 106 days. The variables significantly associated to shorter TTD were Eastern Cooperative Oncology Group performance status (1-2 versus 0), the number of previous lines of treatment (2-4 versus 0-1) and prescribed dose (200 mg or 400 mg versus 800 mg, all once daily). Among the most represented (>20 patients) histological subtypes, we also observed longer TTD in patients with histological diagnosis of malignant solitary fibrous tumor if compared with undifferentiated sarcoma not otherwise specified. CONCLUSIONS In this nationwide observational real-world study, the outcomes are similar to those reported in the pivotal trial (PALETTE study). Our study includes a significant number of patients with rare/ultra-rare sarcoma subtypes and underlines possible differences in treatment duration among these histologies.
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Affiliation(s)
- B Vincenzi
- Department of Medical Oncology, Università Campus Bio-Medico di Roma, Rome, Italy; Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy
| | | | - S Celant
- Italian Medicines Agency, Rome, Italy
| | - A Mazzocca
- Department of Medical Oncology, Università Campus Bio-Medico di Roma, Rome, Italy; Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.
| | - A Cortellini
- Department of Medical Oncology, Università Campus Bio-Medico di Roma, Rome, Italy; Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy
| | | | | | | | - P Russo
- Italian Medicines Agency, Rome, Italy
| | - P G Casali
- Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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31
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Li X, Zhang H, Hu C, Hu L, Guo H, Chen H, Li G, Huang Q, Jiang S, Zhang S, Xing Z, Wang X. Prognostic significance of collagen content in solitary fibrous tumors of the central nervous system. Front Oncol 2024; 14:1450813. [PMID: 39600632 PMCID: PMC11588704 DOI: 10.3389/fonc.2024.1450813] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2024] [Accepted: 10/24/2024] [Indexed: 11/29/2024] Open
Abstract
Purpose We aimed to explore the prognostic significance of collagen content in solitary fibrous tumors (SFTs) of the central nervous system (CNS) and preliminarily investigate its relationship with magnetic resonance imaging (MRI) features of SFTs. Methods Collagen content was identified using Masson's trichrome staining, and quantitatively assessed. Radiomic methods were applied to extract quantitative MRI features of SFTs, which were then analyzed in relation to collagen content. Results The collagen content in CNS SFTs was categorized into high- and low-content groups, with a cutoff value of 6%. Survival analysis indicated a positive correlation between collagen content and overall survival (OS). In multivariate Cox regression analysis, incorporating factors such as mitosis, necrosis, Ki67, and collagen content and other indicators, collagen content emerged as an independent prognostic factor. Collagen content demonstrated a negative correlation with tumor histological phenotype, Ki67, WHO grade, mitosis, necrosis, and brain invasion. Additionally, the signal intensity of SFTs on T2-weighted imaging (T2WI) decreased with increasing collagen content. Radiomics analysis identified 1,702 features from each patient's region of interest, with 12 features showing significant differences between the high and low collagen content groups. Among the quantitative parameters and radiomic models, the combined T1- and T2WI models exhibited the highest diagnostic performance. Conclusion These findings suggest that collagen content is an independent prognostic risk factor for OS. Furthermore, combined radiomic models based on T1-and T2WI sequences may offer a more comprehensive, objective, and accurate assessment of collagen content in CNS SFTs.
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Affiliation(s)
- Xiaoling Li
- Department of Pathology, The Second Hospital of Longyan, Longyan, Fujian, China
- Department of Pathology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Hua Zhang
- Department of Radiology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Radiology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Chengcong Hu
- Department of Pathology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Liwen Hu
- Department of Pathology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Huibin Guo
- Department of Pathology, The Second Hospital of Longyan, Longyan, Fujian, China
| | - Hongbao Chen
- Department of Pathology, The Second Hospital of Longyan, Longyan, Fujian, China
| | - Guoping Li
- Department of Pathology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Qian Huang
- Department of Pathology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Shuie Jiang
- Department of Pathology, Jianning General Hospital, Sanming, Fujian, China
| | - Sheng Zhang
- Department of Pathology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Zhen Xing
- Department of Radiology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Radiology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
| | - Xingfu Wang
- Department of Pathology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, First Affiliated Hospital, National Regional Medical Center, Fujian Medical University, Fuzhou, Fujian, China
- Department of Pathology, Jianning General Hospital, Sanming, Fujian, China
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Cui M, Wei H, Feng R, Chen J. Urachal inflammatory myofibroblastic tumor: A case report. Asian J Surg 2024:S1015-9584(24)02518-1. [PMID: 39537481 DOI: 10.1016/j.asjsur.2024.10.184] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/04/2024] [Accepted: 10/10/2024] [Indexed: 11/16/2024] Open
Affiliation(s)
- Maocan Cui
- Department of Urology Surgery, The Second Affiliated Hospital of Kunming Medical University, No.374 Dian Myanmar Avenue, Kunming, 650101, China
| | - HaiRong Wei
- Department of Urology Surgery, The Second Affiliated Hospital of Kunming Medical University, No.374 Dian Myanmar Avenue, Kunming, 650101, China
| | - Runlin Feng
- Pathology Department, The Second Affiliated Hospital of Kunming Medical University, No.374 Dian Myanmar Avenue, Kunming, 650101, China
| | - Jian Chen
- Department of Urology Surgery, The Second Affiliated Hospital of Kunming Medical University, No.374 Dian Myanmar Avenue, Kunming, 650101, China.
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Muhib M, Abidi SLF, Ahmed U, Afzal A, Farooqui A, Khalid Jamil OB, Ahmed S, Agha H. Use of radiologic imaging to differentiate lipoma from atypical lipomatous tumor/well-differentiated liposarcoma: Systematic review. SAGE Open Med 2024; 12:20503121241293496. [PMID: 39526094 PMCID: PMC11549689 DOI: 10.1177/20503121241293496] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2024] [Accepted: 10/08/2024] [Indexed: 11/16/2024] Open
Abstract
Background Lipomas and atypical lipomatous tumors or well-differentiated liposarcomas (ALTs/WDLs), pose a diagnostic challenge due to their overlapping clinical and imaging features. Accurate differentiation is crucial as treatment strategies differ significantly between benign lipomas and malignant ALTs/WDLs. In recent years, medical imaging techniques have shown promise in distinguishing lipomas from ALTs/WDLs by providing enhanced visualization and assessment of various imaging parameters. Objective This systematic review aimed to investigate the use of magnetic resonance (MR) imaging and computed tomography (CT) scan to differentiate lipomas from ALTs/WDLs. Methods A systematic review was conducted by using MEDLINE, PubMed, PubMed Central, Cochrane Library, Google Scholar, and clinical trail.gov to identify imaging studies published between 2001 and 2022. Two independent reviewers reviewed 221 record to scrutinize the studies. The methodological quality of each included studies was assessed the using Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool. Results Thirteen retrospective cohort studies included 1,390 of total patients. Among them, 11 studies used MR imaging, 2 studies used CT scan and MR imaging both to differentiate lipoma from ALTs/WDLs. The significant diagnostic variables identified in the included studies were age, size, texture, mean intensity, contrast enhancement, location, septation, and nodularity. The overall, sensitivity, specificity, and accuracy of the included studies for diagnosis of lesions range from 66% to 100%, 37% to 100%, and 76% to 95%, respectively. The positive and negative predictive values range from 46.9% to 90% and 86% to 100%, respectively. Conclusion The most frequent diagnostic features of ALTs/ WDLs include tumors ⩾110 mm in size, often in patients over 60, predominantly in the lower extremities, with an irregular shape, incomplete fat suppression, contrast enhancement, nodularity, septation >2 mm, and predictive markers such as lactate dehydrogenase >220 and a short tau inversion recovery-signal intensity ratio >1.18.
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Affiliation(s)
- Muhammad Muhib
- United Medical & Dental College, Karachi, Sindh, Pakistan
| | | | - Uzair Ahmed
- United Medical & Dental College, Karachi, Sindh, Pakistan
| | - Ahson Afzal
- Dow University of Health Sciences, Karachi, Sindh, Pakistan
| | | | | | - Shayan Ahmed
- Shaheed Mohtarma Benazir Bhutto Medical College Lyari, Karachi, Sindh, Pakistan
| | - Hifza Agha
- Shaheed Mohtarma Benazir Bhutto Medical College Lyari, Karachi, Sindh, Pakistan
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Chisholm JC, Selfe JL, Alaggio R, Cheesman E, Zin A, Tombolan L, Parafioriti A, Milano GM, Adams M, Popov S, Česen M, Tafjord S, Jenney M, Proszek PZ, Schlecht H, Carlo DD, Shipley J, Kelsey A. Clinicopathological Analysis of a European Cohort of MYOD1 Mutant Rhabdomyosarcomas in Children and Young Adults. Pediatr Blood Cancer 2024:e31428. [PMID: 39511703 DOI: 10.1002/pbc.31428] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/08/2024] [Revised: 09/05/2024] [Accepted: 10/22/2024] [Indexed: 11/15/2024]
Abstract
BACKGROUND Patients with PAX3/7-FOXO1 fusion-negative rhabdomyosarcomas (fnRMS) harbouring the rare L122R MYOD1 mutation have significantly poorer prognosis than other fnRMS. We undertook a detailed clinicopathological evaluation of a cohort of patients with MYOD1 mutated fnRMS in order to improve risk stratification and treatment options. PROCEDURE Histological, mutational and clinical data from a cohort of patients with MYOD1 mutant RMS treated in Europe were analysed. RESULTS Thirty-two cases with mutant MYOD1 RMS were identified from patients enrolled in sequential European rhabdomyosarcoma clinical trials from 1992 to 2022 (n = 22) and non-trial cohorts (n = 10). Thirty cases had the recurrent L122R missense mutation, one case harboured a K124E mutation and one case had a truncating mutation (S63X). Increased MyoD1 and reduced MYF4 immunostaining were consistent features of MYOD1L122R-mutated RMS. Applying the risk stratification of the European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS2005 trial, among 20 localised RMS cases that could be assigned a risk category, one was Very High Risk, 13 were High Risk and six were Standard Risk. Eight patients had distant metastases at diagnosis. Of the 25 patients with adequate clinical follow-up data, 15/25 (60%) patients had an event at a median time of 9 months (12/15 included failure of local control) and 13/25 (52%) died of disease. CONCLUSION This MYOD1 mutant cohort demonstrates increased MYOD and reduced MYF4 immunostaining, high risk of local failure and poor survival in agreement with other studies. Increased treatment intensity and improved local control should be considered for these patients.
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Affiliation(s)
- Julia C Chisholm
- Children and Young People's Unit, Royal Marsden Hospital and Institute of Cancer Research, Sutton, UK
| | - Joanna L Selfe
- Sarcoma Molecular Pathology Team, Divisions of Molecular Pathology and Cancer Therapeutics, The Institute of Cancer Research, London, UK
| | - Rita Alaggio
- Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Department of Medico-Surgical Sciences and Biotechnologies, Università Sapienza, Rome, Italy
| | - Edmund Cheesman
- Department of Diagnostic Paediatric Pathology, Royal Manchester Children's Hospital, Manchester, UK
| | - Angelica Zin
- Institute of Pediatric Research-Fondazione Città della Speranza, Padova, Italy
| | - Lucia Tombolan
- Pediatric Hematology Oncology Unit, Azienda Ospedale - Università Padova, Padova, Italy
| | - Antonina Parafioriti
- Anatomia Patologica ASST Centro Specialistico Ortopedico Traumatologico Gaetano Pini-Cto, Milano, Italy
| | - Giuseppe Maria Milano
- Division of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
| | - Madeleine Adams
- Department of Paediatric Oncology, Noah's Ark Children's Hospital for Wales, Cardiff, UK
| | - Sergey Popov
- Anatomical Pathology, Department of Pathology, Sidra Medicine, Doha, Qatar
| | - Maja Česen
- University Children's Hospital Ljubljana, Ljubljana, Slovenia
| | - Svetlana Tafjord
- Pathology Department, Oslo University Hospital, Rikshospitalet, Oslo, Norway
| | - Meriel Jenney
- Department of Paediatric Oncology, Noah's Ark Children's Hospital for Wales, Cardiff, UK
| | - Paula Z Proszek
- Clinical Genomics Translational Research Laboratory, Royal Marsden Hospital and Molecular Pathology, The Institute of Cancer Research, London, UK
| | - Helene Schlecht
- North West Genomic Laboratory Hub, St Mary's Hospital, Manchester, UK
| | - Daniela Di Carlo
- Department of Women's and Children's Health, University of Padova, Padova, Italy
- Pediatric Hematology-Oncology Division, University Hospital of Padova, Padova, Italy
| | - Janet Shipley
- Sarcoma Molecular Pathology Team, Divisions of Molecular Pathology and Cancer Therapeutics, The Institute of Cancer Research, London, UK
| | - Anna Kelsey
- Department of Diagnostic Paediatric Pathology, Royal Manchester Children's Hospital, Manchester, UK
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Khurana E, Mody S, Shah T, Bouffard JP, Pedemonte M, Holover G, Lee JS, Jacob G, Scheid S, Morin R, Mazzola C. Pediatric skull inflammatory myofibroblastic tumor: a rare case report and literature review. Childs Nerv Syst 2024; 40:3829-3835. [PMID: 38918263 DOI: 10.1007/s00381-024-06512-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/16/2024] [Accepted: 06/19/2024] [Indexed: 06/27/2024]
Abstract
Inflammatory myofibroblastic tumors (IMTs) represent rare neoplasms, particularly infrequent in the pediatric skull. We present a novel case of a newborn male with a 5 cm right temporal mass and discuss current diagnostic and treatment options for IMTs. A multidisciplinary effort to surgically remove the lesion was successful, and the patient's skull defect healed without neurological deficits. The etiology of IMTs remains elusive, with proposed associations with chromosomal mutations in the anaplastic lymphoma kinase (ALK) gene. Surgical excision remains the primary treatment for IMTs. Promising pharmacological treatments, like Crizotinib, warrant further research into understanding potential alternatives in IMT management.
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Affiliation(s)
| | - Shaan Mody
- NJ Craniofacial Center, Morristown, NJ, 07960, USA
| | - Tanisha Shah
- NJ Craniofacial Center, Morristown, NJ, 07960, USA
| | | | - Maria Pedemonte
- Department of Pathology, Atlantic Health System, Summit, NJ, 07960, USA
| | | | | | - Gregg Jacob
- NJ Craniofacial Center, Morristown, NJ, 07960, USA
| | - Sara Scheid
- NJ Craniofacial Center, Morristown, NJ, 07960, USA
| | - Robert Morin
- NJ Craniofacial Center, Morristown, NJ, 07960, USA
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Maqbool N, Pal KMB, Uddin Z, Safdar F. Inflammatory myofibroblastic tumor: A rare cause of intestinal obstruction: Case report. Int J Surg Case Rep 2024; 124:110438. [PMID: 39437499 PMCID: PMC11532891 DOI: 10.1016/j.ijscr.2024.110438] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/19/2024] [Revised: 10/07/2024] [Accepted: 10/09/2024] [Indexed: 10/25/2024] Open
Abstract
INTRODUCTION AND IMPORTANCE Inflammatory myofibroblastic tumor IMT1 is a rare neoplasm with diverse clinical presentations, needing histological confirmation for diagnosis. The tumor often mimics malignant conditions, making accurate diagnosis challenging. CASE PRESENTATION We report a case of a 29-year-old male presenting with long standing recurrent abdominal pain, with more recent increasing frequency and associated weight loss. Imaging revealed a heterogenous soft tissue lesions causing mechanical small bowel obstruction, prompting surgical intervention. Histology analysis confirmed the diagnosis of IMT. CLINICAL DISCUSSION This case highlights the importance of considering IMT in the differential diagnosis of neoplastic mechanical small bowel obstruction, particularly in patients presenting with atypical symptoms and image findings. Despite its rarity, IMT should be considered, as it can present similarly to more common malignancies. Further research is warranted to unravel the pathogenesis and refine management strategies for this intriguing neoplasm. CONCLUSION IMT is a rare and intriguing neoplasm that presents significant diagnostic challenge. This case emphasize the need for thorough histological evaluation to confirm rhe diagnosis and guide appropriate management strategies.
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Affiliation(s)
- Nargis Maqbool
- Department of Surgery, Aga Khan University Hospital, Karachi, Pakistan.
| | | | - Zeeshan Uddin
- Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan
| | - Fatima Safdar
- Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan
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Oh YJ, Lee JE, You SK, Ohm JY, Han HY, Kim JM, Shin KS. Multimodality Imaging Features of Various Splenic Lesions: Clinical and Histopathologic Correlation. JOURNAL OF THE KOREAN SOCIETY OF RADIOLOGY 2024; 85:1099-1125. [PMID: 39660321 PMCID: PMC11625836 DOI: 10.3348/jksr.2024.0004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 01/03/2024] [Revised: 04/02/2024] [Accepted: 04/24/2024] [Indexed: 12/12/2024]
Abstract
The spleen is occasionally referred to as the 'forgotten organ' because splenic lesions are less common and encountered rarely compared to pathologies of other abdominal solid organs. Therefore, although well-demonstrated using various abdominal imaging modalities, radiologists tend to be less familiar with splenic diseases, making interpretation challenging. This study aimed to review common and uncommon splenic diseases and illustrate the multimodal imaging (including ultrasonography, CT, MRI, and PET/CT) features of these lesions in correlation with their histopathology. Recognizing the radiological findings of various splenic lesions helps narrow down the differential diagnosis and guide appropriate clinical decision-making for radiologists.
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Ren C, Liu J, Hornicek FJ, Yue B, Duan Z. Advances of SS18-SSX fusion gene in synovial sarcoma: Emerging novel functions and therapeutic potentials. Biochim Biophys Acta Rev Cancer 2024; 1879:189215. [PMID: 39528099 DOI: 10.1016/j.bbcan.2024.189215] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/20/2024] [Revised: 10/31/2024] [Accepted: 11/02/2024] [Indexed: 11/16/2024]
Abstract
Synovial sarcoma is a rare type of soft tissue sarcoma that primarily affects adolescents and young adults, featured by aggressive behavior and a high potential for metastasis. Genetically, synovial sarcoma is defined by the fusion oncogene SS18-SSX arising from the translocation of t(X;18)(p11;q11). SS18-SSX fusion gene is the major driver of the oncogenic event in synovial sarcoma. SS18-SSX fusion protein, while not containing any DNA-binding motifs, binds to the SWI/SNF (BAF) complex, a major epigenetic regulator, leading to the disruption of gene expression which results in tumor initiation and progression. Emerging studies on the molecular mechanisms of SS18-SSX associated signaling pathway hold promise for developments in diagnosis and treatments. Advanced diagnostic methods facilitate early and precise detection of the tumor, enabling disease monitoring and prognostic improvements. Treatment of synovial sarcoma typically comprises local surgery, radiotherapy and chemotherapy, while novel managements such as immunotherapy, targeted therapies and epigenetic modifiers are explored. This review focuses on the recent studies of SS18-SSX fusion gene, epigenetic landscape, signaling pathways, diagnostic techniques, and relevant therapeutic advances, aiming to inhibit the oncogenic processes and improve outcomes for patients with synovial sarcoma.
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Affiliation(s)
- Chongmin Ren
- Department of Bone Tumor, The Affiliated Hospital of Qingdao University, No.59 Haier Road, Qingdao, Shandong 266101, China; Department of Orthopedic Surgery, Sarcoma Biology Laboratory, Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Papanicolaou Cancer Research Building, 1550 NW. 10th Avenue, Miami, Florida 33136, USA.
| | - Jia Liu
- Department of Pediatric Nephrology, Rheumatology and Immunity, The Affiliated Hospital of Qingdao University, No.16 Jiangsu Road, Qingdao, Shandong 266003, China.
| | - Francis J Hornicek
- Department of Orthopedic Surgery, Sarcoma Biology Laboratory, Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Papanicolaou Cancer Research Building, 1550 NW. 10th Avenue, Miami, Florida 33136, USA.
| | - Bin Yue
- Department of Bone Tumor, The Affiliated Hospital of Qingdao University, No.59 Haier Road, Qingdao, Shandong 266101, China.
| | - Zhenfeng Duan
- Department of Orthopedic Surgery, Sarcoma Biology Laboratory, Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Papanicolaou Cancer Research Building, 1550 NW. 10th Avenue, Miami, Florida 33136, USA.
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Xu P, Yuan J, Li K, Wang Y, Wu Z, Zhao J, Li T, Wu T, Miao X, He D, Cheng X. Development and validation of a novel endoplasmic reticulum stress-related lncRNAs signature in osteosarcoma. Sci Rep 2024; 14:25590. [PMID: 39462063 PMCID: PMC11513957 DOI: 10.1038/s41598-024-76841-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/10/2024] [Accepted: 10/17/2024] [Indexed: 10/28/2024] Open
Abstract
Osteosarcoma (OS) is a cancerous tumor, and its development is greatly influenced by long non-coding RNA (lncRNA). Endoplasmic reticulum stress (ERS) is an essential biological defense process in cells and contributes to the progression of tumors. However, the exact mechanisms remain elusive. This study aims to develop a signature of lncRNAs associated with ERS in OS. This signature will guide the prognosis prediction and the determination of appropriate treatment strategies. The UCSC Xena database collected transcriptional and clinical data of OS and muscle, after identifying ERS differentially expressed genes, we utilized correlation analysis to determine the endoplasmic reticulum stress lncRNAs (ERLs). The Least Absolute Shrinkage and Selection Operator (LASSO) and Cox regression analysis were utilized to develop an ERLs signature. To clarify the fundamental mechanisms controlling gene expression in low and high-risk groups, Gene Set Variation Analysis (GSVA) were conducted. In addition, the distinction between the two groups regarding drug sensitivity and immune-related activity was investigated to determine the immunotherapy effects. Utilizing RT-qPCR, the expression of model lncRNAs in OS cell lines was ascertained. The functional analysis of LINC02298 was carried out through in vitro experiments and pan-cancer analysis. This study successfully constructed an ERLs prognostic signature for OS, which comprised 5 lncRNAs (AC023157.3, AL031673.1, LINC02298, LINC02328, SNHG26). The risk signature predicted overall survival in patients with OS and was confirmed by assessing the validation and whole cohorts. Further, it was discovered that individuals classified as high-risk displayed suppressed immune activation, decreased infiltration of immune cells, and decreased responsiveness to immunotherapy. The RT-qPCR showed that the constructed risk prognosis model is reliable. Experimental validation has demonstrated that LINC02298 can promote OS cells' invasion, migration, and proliferation. In addition, LINC02298 exhibited significant differential expression in many types of cancer. Moreover, LINC02298 is an important biomarker in a variety of tumors. This study established a novel ERLs signature, which successfully predicted the prognosis of OS. The function of LINC02298 in OS was elucidated via in vitro experiments. Therefore, it offers new opportunities for predicting the clinical prognosis of OS and establishes the basis for targeted therapy in OS.
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Affiliation(s)
- Peichuan Xu
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
- Jiangxi Provincial Key Laboratory of Spine and Spinal Cord Disease, Nanchang University, 330006, Nanchang, China
| | - Jinghong Yuan
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
- Jiangxi Provincial Key Laboratory of Spine and Spinal Cord Disease, Nanchang University, 330006, Nanchang, China
| | - Kaihui Li
- Center of Stomatology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
| | - Yameng Wang
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
- Jiangxi Provincial Key Laboratory of Spine and Spinal Cord Disease, Nanchang University, 330006, Nanchang, China
| | - Zhiwen Wu
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
- Jiangxi Provincial Key Laboratory of Spine and Spinal Cord Disease, Nanchang University, 330006, Nanchang, China
| | - Jiangminghao Zhao
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
- Jiangxi Provincial Key Laboratory of Spine and Spinal Cord Disease, Nanchang University, 330006, Nanchang, China
| | - Tao Li
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
- Jiangxi Provincial Key Laboratory of Spine and Spinal Cord Disease, Nanchang University, 330006, Nanchang, China
| | - Tianlong Wu
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
| | - Xinxin Miao
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
| | - Dingwen He
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China
| | - Xigao Cheng
- Department of Orthopaedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, 330006, Nanchang, China.
- Jiangxi Provincial Key Laboratory of Spine and Spinal Cord Disease, Nanchang University, 330006, Nanchang, China.
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Li Z, Xiao K, Niu S, Zhu Q, Xiao Z, Yang P. Comprehensive treatment of primary pelvic synovial sarcoma: A 28-month follow-up case report and review of the literature. Heliyon 2024; 10:e38807. [PMID: 39430488 PMCID: PMC11489358 DOI: 10.1016/j.heliyon.2024.e38807] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/23/2024] [Revised: 09/27/2024] [Accepted: 09/30/2024] [Indexed: 10/22/2024] Open
Abstract
Background Primary synovial sarcoma originating in the pelvis is an extremely rare malignancy, and only a few cases have been reported. Usually, the tumor is detected at an advanced stage, making treatment more difficult. Lacking high-quality research, there are no consensus guidelines for the systemic treatment of the disease. Case presentation We admitted a 32-year-old male patient with an MRI suggestive of an 8.2 × 7.7 x 8.9 cm mass in the pelvis with bleeding. After a comprehensive evaluation, the patient underwent surgery, and postoperative pathology suggested biphasic synovial sarcoma. Once the diagnosis was clear, the patient was treated with chemotherapy, radiotherapy, and targeted therapy. Unfortunately, the patient died due to a recurrence of pelvic synovial sarcoma with multiple metastases throughout the body, with a survival period of 28 months. Conclusion Synovial sarcoma, a highly malignant soft tissue tumor, and primary intrapelvic synovial sarcoma are even rarer, with a poor prognosis. Ultrasound, Computed Tomography, and MRI can help doctors detect the tumor at an early stage and treat it aggressively, especially with surgical treatment, which can effectively improve the survival rate. Combined with the course of diagnosis and treatment of this case, it is possible to deepen the understanding of primary pelvic synovial sarcoma and discuss appropriate treatment strategies for this rare disease.
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Affiliation(s)
- Zhiwei Li
- Department of Urology, Suzhou Kowloon Hospital, Shanghai Jiaotong University School of Medicine, Suzhou, China
| | - Kaibing Xiao
- Department of Intensive Care Unit, The First People's Hospital of Guangyuan, Guangyuan, China
| | - Shaorui Niu
- Department of Urology, The First Hospital of Nanchang, Nanchang, China
| | - Qiqi Zhu
- Department of Urology, The First Affiliated Hospital of Nanchang University, Nanchang, China
| | - Zhiyang Xiao
- Department of Urology, The First Hospital of Nanchang, Nanchang, China
| | - Pang Yang
- Department of Urology, The First Hospital of Nanchang, Nanchang, China
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Ré F, Carrabetta S, Merlo E, Bisagni P. Multiple Small Bowel Cavernous Hemangiomatosis: Case Report and Literature Review. MEDICINA (KAUNAS, LITHUANIA) 2024; 60:1664. [PMID: 39459451 PMCID: PMC11509273 DOI: 10.3390/medicina60101664] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/07/2024] [Revised: 10/02/2024] [Accepted: 10/08/2024] [Indexed: 10/28/2024]
Abstract
A 79 year old female individual presented to the hospital and complained of 1 month melena and anemia due to chronic gastrointestinal bleeding because of cavernous hemangiomatosis of the small bowel. After undergoing an initial video laparoscopic jejunal-ileal resection surgery 7 days after first hospitalization, given the persistence of anemia, she underwent laparotomic duodenojejunal resection surgery again 2 months later. Multiple cavernous hemangiomatosis is a rare vascular disease (7-10% of all benign small bowel tumors), and it often manifests with bleeding, which may be occult or massive; more rarely, it manifests with intestinal occlusion or perforation. Diagnoses often require the use of multiple radiological and endoscopic methods; video capsule endoscopy has significantly increased the diagnostic rate. The gold standard of treatment is surgical resection, whenever possible, balancing the need for radicality with the possible metabolic consequences of massive small intestine resections.
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Affiliation(s)
- Francesca Ré
- General Surgery Department, Villa Scassi, 16149 Genova, Italy; (F.R.); (S.C.)
| | | | - Eugenio Merlo
- Pathology Department, Villa Scassi, 16149 Genova, Italy;
| | - Pietro Bisagni
- General Surgery Department, ASST Lodi—Università Statale di Milano, 20122 Milano, Italy
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Paruthikunnan S, Gorelik N, Turcotte RE, Jung S, Alcindor T, Powell TI. Clinical impact of whole-body MRI in staging and surveillance of patients with myxoid liposarcoma: a 14-year single-centre retrospective study. Eur Radiol 2024; 34:6688-6700. [PMID: 38637427 DOI: 10.1007/s00330-024-10752-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/08/2023] [Revised: 02/27/2024] [Accepted: 03/14/2024] [Indexed: 04/20/2024]
Abstract
OBJECTIVE To assess the clinical impact of regular whole-body magnetic resonance imaging (WBMRI) surveillance in myxoid liposarcoma patients. METHODS This was a retrospective cohort study of myxoid liposarcoma patients who underwent at least one WBMRI at our institution between October 2006 and December 2020. The effect of WBMRI on clinical management, namely treatment modification or additional diagnostic investigations was studied. A standardised WBMRI surveillance protocol was instituted in 2015. We compared patient outcomes for the metastatic patients who had and had not received regular WBMRI surveillance and performed survival analysis for both subgroups. RESULTS Of the 56 patients (60.7% male, median age: 48.1 years) who underwent 345 WBMRI, 17 (30.3%) had metastases, and 168 WBMRI were performed in this group. The median imaging follow-up for the entire cohort was 35 months; the metastatic group had a median follow-up of 42 months. WBMRI changed the clinical management in 13 (76.5%) metastatic patients, with 33 instances of treatment modification. Thirty-five lesions were labelled 'indeterminate,' 16 (45.7%) had additional investigations/interventions, and 4 (11.4%) were confirmed to be metastatic. Twenty-one metastatic lesions were missed initially on WBMRI and confirmed on subsequent WBMRI, of which 5 (23.8%) were clinically significant. The 5-year survival since the detection of metastasis was better in the regular surveillance subgroup (85.7% vs. 45%), but this was not statistically significant (p = 0.068). Five patients (8.9%) developed their first metastasis more than 5 years after diagnosing the primary lesion. CONCLUSION Regular WBMRI surveillance of myxoid liposarcoma patients considerably impacts clinical management by frequently influencing treatment decisions. CLINICAL RELEVANCE STATEMENT WBMRI has been recently recommended as an imaging option for the staging and surveillance of myxoid liposarcoma patients. Our study highlights the impact of regular WBMRI surveillance on the clinical management of these patients and how it affects their survival.
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Affiliation(s)
- Samir Paruthikunnan
- York and Scarborough Teaching Hospitals NHS Foundation Trust, York, United Kingdom.
| | - Natalia Gorelik
- Department of Radiology, McGill University Health Centre, Montreal, Canada
| | - Robert E Turcotte
- Division of Orthopaedic Surgery, McGill University Health Centre, Montreal, Canada
| | - Sungmi Jung
- Department of Pathology, McGill University Health Centre, Montreal, Canada
| | - Thierry Alcindor
- Department of Medical Oncology, McGill University Health Centre, Montreal, Canada
| | - Thomas I Powell
- Department of Radiology, McGill University Health Centre, Montreal, Canada
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Chaturvedi HT, Chaturvedi C. Hybrid peripheral nerve sheath tumours - A Review. J Oral Maxillofac Pathol 2024; 28:651-656. [PMID: 39949689 PMCID: PMC11819630 DOI: 10.4103/jomfp.jomfp_126_24] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/09/2024] [Revised: 11/08/2024] [Accepted: 11/11/2024] [Indexed: 02/16/2025] Open
Abstract
Hybrid peripheral nerve sheath tumours (PNSTs) are mainly benign, which represent combined areas of neurofibroma, schwannoma, and perineurioma in various combinations and pose challenges to the surgeon and the pathologist. They are relatively new in pathology and were first published in the fourth edition of World Health Organization Classification of Tumors of Soft tissue and Bone in 2013. They are mainly dermal or subcutaneous, and the most common variant of hybrid nerve sheath tumour is perineurioma-schwannoma. The combination of neurofibroma/schwannoma usually has an increased frequency with neurofibromatosis (NF) type 1 or 2 and schwannomatosis. In contrast, neurofibroma/perineurioma, mainly associated with NF1, are rare. Diagnosis is established by histopathology and immunohistochemistry. Hence, they embark diagnostic challenge and demand extreme vigilance and caution. However, the molecular pathogenesis, recurrence rates, and risk of malignant transformation of hybrid PNST remain poorly understood. A novel CHD7-VGLL3 fusion gene in a hybrid schwannoma-perineurioma and recurrent ERBB2 mutations in a subset of hybrid neurofibroma/schwannomas were identified. We have tried, via this article, to represent a brief update on hybrid nerve sheath tumours.
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Affiliation(s)
- Himani T. Chaturvedi
- Department of Oral Pathology, Faculty of Dental Sciences, Dharmsinh Desai University, Nadiad, Gujarat, India
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Stergiopoulos GM, Siontis BL, Petersen IA, Houdek MT, Ho TP, Okuno SH, Robinson SI. Cardiac Metastasis from Myxoid Liposarcoma Managed Successfully with Chemotherapy and Radiotherapy: Case Report and Review of the Literature. Curr Oncol 2024; 31:5384-5398. [PMID: 39330026 PMCID: PMC11431419 DOI: 10.3390/curroncol31090398] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2024] [Revised: 08/30/2024] [Accepted: 09/10/2024] [Indexed: 09/28/2024] Open
Abstract
BACKGROUND Liposarcoma, one of the most prevalent sarcoma histologies, is recognized for its tendency for extra-pulmonary metastases. While oligometastatic cardiac disease is rarely reported, it poses a unique challenge as oligometastatic sarcomas are often managed with surgical resection. CASE REPORT We present a case of a 62-year-old man diagnosed with an oligometastatic myxoid liposarcoma (MLPS) to the heart 19 years after the primary tumor resection from the lower limb. The metastatic mass, situated in the pericardium adjacent and infiltrating the left ventricle, was not managed surgically but with a combination of chemotherapy and radiotherapy. The patient's disease remains stable to date, for more than 10 years. LITERATURE REVIEW We conducted a review of the literature to determine the preferred management approach for solitary cardiac metastases of sarcomas. We also conducted an in-depth analysis focusing on reported cases of MLPS metastasizing to the heart, aiming to extract pertinent data regarding the patient characteristics and the corresponding management strategies. CONCLUSIONS Although clinical diagnoses of solitary or oligometastatic cardiac metastases from sarcomas are infrequent, this case underscores the significance of aggressive management employing chemotherapy and radiotherapy for chemosensitive and radiosensitive sarcomas, especially when surgical removal is high-risk. Furthermore, it challenges the notion that surgery is the exclusive therapeutic option leading to long-term clinical benefit in patients with recurrent sarcomas.
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Affiliation(s)
| | | | - Ivy A. Petersen
- Department of Radiation Oncology, Mayo Clinic, Rochester, MN 55905, USA
| | - Matthew T. Houdek
- Department of Orthopedic Surgery, Mayo Clinic, Rochester, MN 55905, USA
| | - Thanh P. Ho
- Department of Medical Oncology, Mayo Clinic, Rochester, MN 55905, USA
| | - Scott H. Okuno
- Department of Medical Oncology, Mayo Clinic, Rochester, MN 55905, USA
| | - Steven I. Robinson
- Department of Molecular Medicine, Mayo Clinic, Rochester, MN 55905, USA;
- Department of Medical Oncology, Mayo Clinic, Rochester, MN 55905, USA
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Yao W, Zhai A, Fang M, Shang X. Angioleiomyoma in the inferior vena cava: Report of a rare case. Asian J Surg 2024; 47:3934-3935. [PMID: 38760207 DOI: 10.1016/j.asjsur.2024.04.165] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/05/2024] [Accepted: 04/25/2024] [Indexed: 05/19/2024] Open
Affiliation(s)
- Wenlin Yao
- Department of Ultrasound, Xiangzhou District People's Hospital of Xiangyang, Xiangyang, Hubei, 441199, China
| | - Aihua Zhai
- Department of Surgery, Xiangzhou District People's Hospital of Xiangyang, Xiangyang, Hubei, 441199, China
| | - Ming Fang
- Department of Ultrasound, Xiangzhou District People's Hospital of Xiangyang, Xiangyang, Hubei, 441199, China.
| | - Xinan Shang
- Department of Ultrasound, Xiangzhou District People's Hospital of Xiangyang, Xiangyang, Hubei, 441199, China.
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Macni C, Kaissar F, Hardwigsen J, Jaloux C, Mayoly A, Witters M, Kachouh N, Fuentes S. Two-stage surgery for large sacrococcygeal chordomas: How I do it. ANN CHIR PLAST ESTH 2024; 69:434-441. [PMID: 38997853 DOI: 10.1016/j.anplas.2024.06.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/20/2023] [Revised: 05/26/2024] [Accepted: 06/02/2024] [Indexed: 07/14/2024]
Abstract
Sacrococcygeal chordoma is a malignant, slow-growing, and locally aggressive bone tumor. A wide surgical margin is recommended to prevent local recurrence and metastasis. This disease tends to cause massive defects when rectal resection and sacrectomy are required. Therefore, soft tissue reconstruction is required and a pedicled vertical rectus abdominis muscle flap (VRAM) is a viable option. Important anatomical landmarks, advantages and limitations are discussed and the procedure is described step by step. This case report presents a two-stage operation with an anterior rectal resection and VRAM flap harvest followed by a complementary posterior approach with sacrectomy and soft tissue reconstruction: approach and results. The wound completely healed in six weeks. Three years after surgery, no local recurrence or distal metastasis was detected. This two-stage strategy presents a viable and safe option for large sacrococcygeal chordomas.
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Affiliation(s)
- C Macni
- Department of hand surgery and plastic and reconstructive surgery of the limbs, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France.
| | - F Kaissar
- Department of neurosurgery, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France
| | - J Hardwigsen
- Department of visceral surgery, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France
| | - C Jaloux
- Department of hand surgery and plastic and reconstructive surgery of the limbs, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France.
| | - A Mayoly
- Department of hand surgery and plastic and reconstructive surgery of the limbs, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France
| | - M Witters
- Department of hand surgery and plastic and reconstructive surgery of the limbs, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France
| | - N Kachouh
- Department of hand surgery and plastic and reconstructive surgery of the limbs, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France
| | - S Fuentes
- Department of neurosurgery, La Timone University Hospital, Assistance publique-Hôpitaux de Marseille, Marseille, France
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Liu J, Yi C, Gong D, Zhao Q, Xie H, Zhao S, Yu H, Lv J, Bian E, Tian D. Construction of a 5-Gene super-enhancer-related signature for osteosarcoma prognosis and the regulatory role of TNFRSF11B in osteosarcoma. Transl Oncol 2024; 47:102047. [PMID: 38972174 PMCID: PMC11283062 DOI: 10.1016/j.tranon.2024.102047] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/18/2023] [Revised: 05/16/2024] [Accepted: 06/22/2024] [Indexed: 07/09/2024] Open
Abstract
Osteosarcoma, one of the most common primary malignancies in children and adolescents, has the primary characteristics of a poor prognosis and high rate of metastasis. This study used super-enhancer-related genes derived from two different cell lines to construct five novel super-enhancer-related gene prognostic models for patients with osteosarcoma. The training and testing datasets were used to confirm the prognostic models of the five super-enhancer-related genes, which resulted in an impartial predictive element for osteosarcoma. The immunotherapy and prediction of the response to anticancer drugs have shown that the risk signature of the five super-enhancer-related genes positively correlate with chemosensitivity. Furthermore, functional analysis of the risk signature genes revealed a significant relationship between gene groups and the malignant characteristics of tumours. TNF Receptor Superfamily Member 11b (TNFRSF11B) was selected for functional verification. Silencing of TNFRSF11B suppressed the proliferation, migration, and invasion of osteosarcoma cells in vitro and suppressed osteosarcoma growth in vivo. Moreover, transcriptome sequencing was performed on MG-63 cells to study the regulatory mechanism of TNFRSF11B in osteosarcoma cells, and it was discovered that TNFRSF11B is involved in the development of osteosarcoma via the phosphoinositide 3-kinase signalling pathway. Following the identification of TNFRSF11B as a key gene, we selected an inhibitor that specifically targeted this gene and performed molecular docking simulations. In addition, risedronic acid inhibited osteosarcoma growth at both cellular and molecular levels. In conclusion, the super-enhancer-related gene signature is a viable therapeutic tool for osteosarcoma prognosis and treatment.
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Affiliation(s)
- Jun Liu
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Chengfeng Yi
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Deliang Gong
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Qingzhong Zhao
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Han Xie
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Shibing Zhao
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Hang Yu
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Jianwei Lv
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China
| | - Erbao Bian
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China.
| | - Dasheng Tian
- Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Anhui Medical University, 678 Fu Rong Road, Hefei, PR China, 230601; Institute of Orthopaedics, Research Center for Translational Medicine, The Second Hospital of Anhui Medical University, Anhui Medical University, Hefei, 230601, PR China.
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Ben Hassine I, Romdhane W, Belkacem R, Anoun J, Baya W, Mzabi A, Ben Fredj F. An Inflammatory Myofibroblastic Tumour Presenting with Limited Mouth-Opening, Hypoesthaesia of The Left Chin and Infraorbital Area, Intermittent Left Eye Ptosis and Converging Strabismus. Eur J Case Rep Intern Med 2024; 11:004568. [PMID: 39247249 PMCID: PMC11379115 DOI: 10.12890/2024_004568] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/10/2024] [Accepted: 05/27/2024] [Indexed: 09/10/2024] Open
Abstract
An inflammatory myofibroblastic tumour (IMT) is a rare neoplasm of mesenchymal origin, defined by myofibroblastic spindle cells accompanied by inflammatory cells, lymphocytes and eosinophils. Its symptomatology depends on the involved site and tends to mimic a malignant tumour clinically and radiologically. The head and neck region accounts for 5% of all IMTs. Here, we report a case of a 35-year-old woman, with no medical history, who presented with a mouth-opening limitation of 8 mm evolving for three years and occurring six months after of a wisdom tooth extraction. She also experienced a recent occurrence of left eye ptosis and a converging strabismus. On examination, the patient had a body temperature at 37°C, with hypoesthaesia of the left chin and infraorbital area, without any other abnormality. Laboratory examinations did not reveal a biological inflammatory syndrome or rhabdomyolysis. The infectious investigations were all negative, as well as the immunological tests, in particular negative for anti-AChR and anti-MuSK antibodies. On the facial computed tomography (CT) scan, we noted an active reshuffle in the left mandible ascending branch with a thickening of the ipsilateral pterygoid muscles and the left temporal meningeal tissue. After corticosteroid therapy 0.7 mg/kg/j, we obtained an improvement in the patient's mouth-opening, thus a biopsy of the lesion was performed under local anaesthesia, revealing IMT. The patient continued the corticosteroids therapy with a progressive tapering resulting in a marked clinical improvement of the mouth-opening limitation and her ptosis. LEARNING POINTS An inflammatory myofibroblastic tumour (IMT) is a challenging disease.Given the variable clinical and radiological presentation of the disease, it is of paramount importance to know it, to be swiftly recognised so diagnosis can be promptly made.The adapted treatment should be immediately started to prevent possible life-threatening outcomes.
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Affiliation(s)
- Imen Ben Hassine
- Faculty of Medicine, University of Sousse, Susa, Tunisia
- Internal Medicine Department, Sahloul University Hospital, Susa, Tunisia
- Geriatric medicine and Gerontology Unit, University of Sousse, Susa, Tunisia
| | - Wiem Romdhane
- Faculty of Medicine, University of Sousse, Susa, Tunisia
- Internal Medicine Department, Sahloul University Hospital, Susa, Tunisia
- Geriatric medicine and Gerontology Unit, University of Sousse, Susa, Tunisia
| | - Raouaa Belkacem
- Department of Oral Medicine and Oral Surgery, Sahloul University Hospital, Susa, Tunisia
| | - Jihed Anoun
- Faculty of Medicine, University of Sousse, Susa, Tunisia
- Internal Medicine Department, Sahloul University Hospital, Susa, Tunisia
- Geriatric medicine and Gerontology Unit, University of Sousse, Susa, Tunisia
| | - Wafa Baya
- Faculty of Medicine, University of Sousse, Susa, Tunisia
- Internal Medicine Department, Sahloul University Hospital, Susa, Tunisia
- Geriatric medicine and Gerontology Unit, University of Sousse, Susa, Tunisia
| | - Anis Mzabi
- Faculty of Medicine, University of Sousse, Susa, Tunisia
- Internal Medicine Department, Sahloul University Hospital, Susa, Tunisia
- Geriatric medicine and Gerontology Unit, University of Sousse, Susa, Tunisia
| | - Fatma Ben Fredj
- Faculty of Medicine, University of Sousse, Susa, Tunisia
- Internal Medicine Department, Sahloul University Hospital, Susa, Tunisia
- Geriatric medicine and Gerontology Unit, University of Sousse, Susa, Tunisia
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Xu N, Xie K, Xin D, Liang Z, Zeng Y. Primary cardiac synovial sarcoma originating from the atrial septum and associated pulmonary infarction: a case report. J Cancer Res Clin Oncol 2024; 150:392. [PMID: 39162837 PMCID: PMC11335867 DOI: 10.1007/s00432-024-05852-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/03/2024] [Accepted: 06/16/2024] [Indexed: 08/21/2024]
Abstract
BACKGROUND Primary cardiac synovial sarcoma is a rare condition with limited treatment options for advanced stages. Surgery and chemotherapy are currently the mainstay treatments; however, survival rates remain low. CASE PRESENTATION A 64-year-old woman presenting with symptoms of chest tightness and shortness of breath was found to have an obstructive right atrial mass, along with pulmonary infarction and metastasis. She was ultimately diagnosed with advanced primary cardiac synovial sarcoma. Following surgery, the patient's symptoms improved, and she underwent chemotherapy and anti-angiogenic therapy, but unfortunately, her survival time was only 8 months. CONCLUSION This case report aims to enhance clinicians' understanding of the diagnosis and treatment of primary cardiac synovial sarcoma. Enhancing both survival outcomes and quality of life in individuals with primary cardiac synovial sarcoma continues to present a significant challenge.
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Affiliation(s)
- Nie Xu
- Department of Oncology, Chengdu First People's Hospital, Chengdu, China.
| | - Kang Xie
- Department of Oncology, Chengdu First People's Hospital, Chengdu, China
| | - Dong Xin
- Department of Cardiovascular Surgery, Chengdu First People's Hospital, Chengdu, China
| | - Zhonglei Liang
- Department of Cardiovascular Surgery, Chengdu First People's Hospital, Chengdu, China
| | - Yongjun Zeng
- Department of Pathology, Chengdu First People's Hospital, Chengdu, China.
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Huang K, Liu WW, Chen XW, Hao YH, Luo SY, Yuan LL, Huang YG, Tang XB. Case report: A rare case of malignant solitary fibrous tumor in an adult with an epithelioid pattern in the occipital region. Front Oncol 2024; 14:1339582. [PMID: 39220647 PMCID: PMC11361973 DOI: 10.3389/fonc.2024.1339582] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/16/2023] [Accepted: 08/01/2024] [Indexed: 09/04/2024] Open
Abstract
We illustrated a rare case of malignant solitary fibrous tumor (MSFT) with epithelioid morphology in the occipital region of a 59-year-old female, in which a rare NAB2ex7-STAT6 exon15/16 double fusion subtype was detected by the Next-generation sequencing (NGS) and STAT6 immunohistochemistry (IHC) was diffusely and strongly positively expressed, without recurrence after 20 months of postoperative follow-up. The morphological and molecular genetic aspects and the differential diagnosis are described, and the relevant literature was assessed in order to broaden our understanding and diagnostic capability of this malignancy.
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Affiliation(s)
| | | | | | | | | | | | - Yu-gang Huang
- Department of Pathology, Taihe Hospital, Hubei University of Medicine, Shiyan, China
| | - Xian-bin Tang
- Department of Pathology, Taihe Hospital, Hubei University of Medicine, Shiyan, China
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