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1
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Giraldo-Roldan D, Gonçalves De Paiva JP, Roza ALOC, Louredo BVR, Santos-Leite ÉG, Vargas PA. Oral and Maxillofacial Low-Grade Myofibroblastic Sarcoma: A Systematic Review. Head Neck Pathol 2025; 19:63. [PMID: 40374967 DOI: 10.1007/s12105-025-01783-1] [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: 03/02/2025] [Accepted: 03/25/2025] [Indexed: 05/18/2025]
Abstract
BACKGROUND This systematic review (SR) aimed to summarize the clinical, histopathological, and immunohistochemical features of low-grade myofibroblastic sarcoma (LGMS) in the oral and maxillofacial region (OMR), as well as treatment protocols, recurrence, follow-up, and metastasis rates. It follows PRISMA 2022 guidelines and is registered in PROSPERO (CRD42023409758). METHODS An electronic search included PubMed, EMBASE, Scopus, Web of Science, LILACS, Google Scholar, and ProQuest databases, and bias risk was assessed using the Joanna Briggs Institute tool. Statistical analyses, including Fisher's and Chi-Squared tests, were conducted to explore associations between clinical variables, and survival analysis was performed using the Kaplan-Meier method. RESULTS Forty-three studies covering 78 cases were included. LGMS showed a slight female predominance (51.28%) and an average patient age of 35.35 years. The most affected sites were the mandible (29.4%), maxilla (19.23%), and tongue (15.38%). Clinical presentations included masses (30.76%), tumors (26.92%), and swelling (12.82%), with symptom duration ranging from 1 week to 30 months. Surgery alone was the primary treatment (60.25%), with recurrence in 20.51% and metastasis in 5.12% of cases. One-year and 5-year overall survival rates were 92.6% and 71.8%, respectively. Surgery as the sole treatment was significantly associated with a lower metastasis rate (p = 0.005). CONCLUSION Our findings highlighted the importance of considering LGMS in differential diagnoses of myofibroblastic lesions and underscored the need for a comprehensive immunohistochemical analysis. Complete surgical excision remains the preferred treatment, though long-term follow-up is needed to better understand recurrence and metastasis risks.
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Affiliation(s)
- Daniela Giraldo-Roldan
- Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil
| | - João Paulo Gonçalves De Paiva
- Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil
| | | | | | - Éder Gerardo Santos-Leite
- Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil
| | - Pablo Agustin Vargas
- Department of Oral Diagnosis, Oral Pathology Area Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, 13.414-903, Piracicaba, São Paulo, Brazil.
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Schollmeyer M, Liebler-Tenorio EM, Felton C, Kohl S, Ulrich R. Sinonasal angiofibroma in a horse. J Comp Pathol 2025; 219:88-90. [PMID: 40367666 DOI: 10.1016/j.jcpa.2025.05.003] [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: 02/27/2025] [Revised: 04/13/2025] [Accepted: 05/06/2025] [Indexed: 05/16/2025]
Abstract
A 34-year-old Haflinger gelding presented with a unilateral, expansile, intranasal mass that regrew after partial excision. After euthanasia, a large pedunculated mass that originated from the left caudal maxillary sinus and obliterated the left nasal cavity was seen by radiological and macroscopic examination. Histopathology revealed a poorly cellular, expansile, well-vascularized neoplasm composed of a loosely arranged meshwork of spindle cells and collagen fibres. Spindle cells were immunopositive for alpha-smooth muscle actin and occasionally for vimentin, whereas endothelial cells immunolabelled for factor VIII-related antigen. Based on clinical, radiological, macroscopic and microscopic similarities to canine and human cases, the mass was diagnosed as an angiofibroma.
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Affiliation(s)
- Magdalena Schollmeyer
- Institute of Veterinary Pathology, Faculty of Veterinary Medicine, Leipzig University, An den Tierkliniken 33, 04103, Leipzig, Germany
| | - Elisabeth M Liebler-Tenorio
- Institute of Molecular Pathogenesis, Friedrich-Loeffler-Institut, Federal Research Institute for Animal Health, Naumburger Str. 96 a, 07743, Jena, Germany
| | - Christina Felton
- Veterinary Practice Dr. Felton, An den Linden 19, Blankenhain, 99444, Germany
| | - Stefan Kohl
- Department of Small Animal Medicine, Faculty of Veterinary Medicine, Leipzig University, An den Tierkliniken 23, 04103, Leipzig, Germany
| | - Reiner Ulrich
- Institute of Veterinary Pathology, Faculty of Veterinary Medicine, Leipzig University, An den Tierkliniken 33, 04103, Leipzig, Germany.
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3
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Dell’Aere S, Balbi V, Stefanello D, Avallone G, Ghisleni G, Perfetto S, Ferrari R, Auletta L, Gariboldi EM, Ubiali A, Romanello C, Verdi A, Roccabianca P. CD117 (KIT) in canine soft tissue sarcoma: an immunohistochemical and c-kit gene mutation assessment. Front Vet Sci 2025; 12:1572923. [PMID: 40271490 PMCID: PMC12014545 DOI: 10.3389/fvets.2025.1572923] [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: 02/07/2025] [Accepted: 03/19/2025] [Indexed: 04/25/2025] Open
Abstract
Introduction Canine soft tissue sarcomas (STSs) are locally aggressive mesenchymal tumors with variable recurrence rates, and often, their therapy is limited to surgical excision. CD117 (KIT) is a tyrosine kinase receptor involved in cell growth and cancer development. c-kit proto-oncogene mutations have been reported to be associated with prognosis and therapy response in human and canine cancers. However, CD117 expression and c-kit mutations have rarely been investigated in canine STSs. This study aims to assess CD117 expression and c-kit mutations in different canine STSs. Methods Spontaneous STSs were surgically removed, fixed, routinely processed, and stained for histological and anti-CD117 immunohistochemical analyses. Staining intensity and percentage of positivity were scored. Cases with intense CD117 expression in more than 50% of cells were analyzed for the presence of mutations in exons 8, 9, or 11 of the c-kit proto-oncogene. Results Overall, 115 canine STSs were collected. Among them, CD117 was expressed in 43 STSs, with diffuse cytoplasmic staining of variable intensity. CD117 was expressed in 16 out of 27 perivascular wall tumors, 12 of 13 sarcomas of fibroblastic origin, 6 of 6 rhabdomyosarcomas, 7 of 46 liposarcomas, and 2 of 3 nerve sheath tumors. Leiomyosarcomas (20 of 20) did not show CD117 expression. Mutations were investigated in 22 cases, all of which returned negative results. Discussion In summary, canine STSs variably expressed CD117, which suggests that tyrosine kinase inhibitors may represent a promising targeted therapy for selected canine STSs histotypes.
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Affiliation(s)
- Silvia Dell’Aere
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Valentina Balbi
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Damiano Stefanello
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Giancarlo Avallone
- Department of Veterinary Medical Science—DIMEVET, Bologna University, Bologna, Italy
| | - Gabriele Ghisleni
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Stefano Perfetto
- BiEsseA Laboratorio Analisi Veterinarie, an Antech Company, Mars Petcare, Science & Diagnostics, Milan, Italy
| | - Roberta Ferrari
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Luigi Auletta
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Elisa Maria Gariboldi
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Alessandra Ubiali
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Caterina Romanello
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Alessandra Verdi
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
| | - Paola Roccabianca
- Department of Veterinary Medicine and Animal Sciences—DIVAS, University of Milano, Lodi, Italy
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Patel A, Deshmukh I, Jones R, Jonna V, Lambroussis CG, Merchant A. Diagnosis and Excision of Glomangioma of the Lower Extremity. Cureus 2025; 17:e80458. [PMID: 40225461 PMCID: PMC11987418 DOI: 10.7759/cureus.80458] [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: 03/12/2025] [Indexed: 04/15/2025] Open
Abstract
Glomangiomas are rare, benign vascular tumors originating from the specialized arteriovenous structure known as the glomus body. These tumors typically occur in subungual or digital locations, such as the fingers and toes. However, extradigital glomangiomas, which develop in other areas of the body, are much less common. When present in atypical sites, these lesions often mimic more prevalent subcutaneous abnormalities, such as sebaceous cysts, lipomas, or dermatofibromas, posing significant diagnostic challenges for clinicians. The nonspecific clinical features of extradigital glomangiomas, particularly the absence of hallmark symptoms like severe localized pain or hypersensitivity, can further complicate the diagnostic process. This case report describes a 67-year-old male who presented with a 1-cm soft, mobile, and asymptomatic lesion near the right knee, initially presumed to be a sebaceous cyst. Following unsuccessful drainage attempts, the lesion was surgically excised. Histopathological examination confirmed the diagnosis of a glomangioma, with glomus cells arranged around branching vascular channels and positive staining for smooth muscle actin and vimentin. Glomangiomas should be considered in the differential diagnosis of persistent subcutaneous masses in unusual locations. Greater recognition of these rare lesions can facilitate timely and appropriate management.
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Affiliation(s)
- Aaryan Patel
- Physical Medicine and Rehabilitation, Lake Erie College of Osteopathic Medicine, Erie, USA
| | - Ishan Deshmukh
- Vascular Surgery, Lake Erie College of Osteopathic Medicine, Elmira, USA
| | - Robert Jones
- General Surgery, Olean General Hospital, Olean, USA
| | - Venkatasai Jonna
- Pathology and Laboratory Medicine, Cooper Medical School of Rowan University, Camden, USA
| | | | - Abbas Merchant
- Physical Medicine and Rehabilitation, Lake Erie College of Osteopathic Medicine, Erie, USA
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De Greef A, Landen L, Fierens H, Baeck M. Primary mucinous carcinoma of the scalp. BMJ Case Rep 2024; 17:e260991. [PMID: 39631911 DOI: 10.1136/bcr-2024-260991] [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] [Indexed: 12/07/2024] Open
Abstract
Mucinous carcinoma of the skin is a rare, low-grade malignancy often clinically misdiagnosed as a benign lesion. This tumour mostly grows locally and has minimal potential for lymphatic or distant metastasis. Commonly affected sites include the periorbital region, particularly the eyelid, and the scalp. Surgical resection is the preferred treatment. However, recurrences are frequent when resection margins are less than 1 cm. Differential diagnosis with mucinous skin metastases can be challenging. We report a patient with an occipital scalp tumour initially considered benign and left untreated for 10 years. After an initial resection, the tumour recurred, requiring a second resection with adequate margins.
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Affiliation(s)
- Axel De Greef
- Dermatology Department, Cliniques universitaires Saint-Luc, Brussels, Belgium
| | - Lucie Landen
- Department of Dermatology, Clinique Saint Jean, Brussels, Belgium
| | - Hugues Fierens
- Department of Dermatology, Clinique Saint Jean, Brussels, Belgium
| | - Marie Baeck
- Dermatology Department, Cliniques universitaires Saint-Luc, Brussels, Belgium
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Ren C, D'Amato G, Hornicek FJ, Tao H, Duan Z. Advances in the molecular biology of the solitary fibrous tumor and potential impact on clinical applications. Cancer Metastasis Rev 2024; 43:1337-1352. [PMID: 39120790 PMCID: PMC11554739 DOI: 10.1007/s10555-024-10204-8] [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: 03/21/2024] [Accepted: 07/29/2024] [Indexed: 08/10/2024]
Abstract
Solitary fibrous tumor (SFT) is a rare fibroblastic mesenchymal neoplasm. The current classification has merged SFT and hemangiopericytoma (HPC) into the same tumor entity, while the risk stratification models have been developed to compensate for clinical prediction. Typically, slow-growing and asymptomatic, SFT can occur in various anatomical sites, most commonly in the pleura. Histologically, SFT consists of spindle to oval cells with minimal patterned growth, surrounded by stromal collagen and unique vascular patterns. Molecularly, SFT is defined by the fusion of NGFI-A-binding protein 2 (NAB2) and signal transducer and activator of transcription 6 (STAT6) genes as NAB2-STAT6. This fusion transforms NAB2 into a transcriptional activator, activating early growth response 1 (EGR1) and contributing to SFT pathogenesis and development. There are several fusion variants of NAB2-STAT6 in tumor tissues, with the most frequent ones being NAB2ex4-STAT6ex2 and NAB2ex6-STAT6ex16/ex17. Diagnostic methods play a crucial role in SFT clinical practice and basic research, including RT-PCR, next-generation sequencing (NGS), FISH, immunohistochemistry (IHC), and Western blot analysis, each with distinct capabilities and limitations. Traditional treatment strategies of SFT encompass surgical resection, radiation therapy, and chemotherapy, while emerging management regimes include antiangiogenic agents, immunotherapy, RNA-targeting technologies, and potential targeted drugs. This review provides an update on SFT's clinical and molecular aspects, diagnostic methods, and potential therapies.
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Affiliation(s)
- Chongmin Ren
- Department of Bone Tumor, The Affiliated Hospital of Qingdao University, No.59 Haier Road, Qingdao, 266101, Shandong, China
- Department of Orthopedic Surgery, Sarcoma Biology Laboratory, Sylvester Comprehensive Cancer Center, and the University of Miami Miller School of Medicine, Papanicolaou Cancer Research Building, 1550 NW. 10Th Avenue, Miami, FL, 33136, USA
- The Orthopedic Hospital, The Affiliated Hospital of Qingdao University, No.59 Haier Road, Qingdao, 266101, Shandong, China
| | - Gina D'Amato
- Department of Orthopedic Surgery, Sarcoma Biology Laboratory, Sylvester Comprehensive Cancer Center, and the University of Miami Miller School of Medicine, Papanicolaou Cancer Research Building, 1550 NW. 10Th Avenue, Miami, FL, 33136, USA
| | - Francis J Hornicek
- Department of Orthopedic Surgery, Sarcoma Biology Laboratory, Sylvester Comprehensive Cancer Center, and the University of Miami Miller School of Medicine, Papanicolaou Cancer Research Building, 1550 NW. 10Th Avenue, Miami, FL, 33136, USA
| | - Hao Tao
- The Orthopedic Hospital, The Affiliated Hospital of Qingdao University, No.59 Haier Road, Qingdao, 266101, Shandong, China.
| | - Zhenfeng Duan
- Department of Orthopedic Surgery, Sarcoma Biology Laboratory, Sylvester Comprehensive Cancer Center, and the University of Miami Miller School of Medicine, Papanicolaou Cancer Research Building, 1550 NW. 10Th Avenue, Miami, FL, 33136, USA.
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Buchinsky D, Pahouja G. Scrotal cellular angiofibroma: A case report and review of the literature. Urol Case Rep 2024; 57:102850. [PMID: 39411355 PMCID: PMC11474220 DOI: 10.1016/j.eucr.2024.102850] [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: 09/18/2024] [Accepted: 09/24/2024] [Indexed: 10/19/2024] Open
Abstract
Scrotal cellular angiofibroma (CAF) is a rare, benign, soft-tissue paratesticular tumor that has been sporadically reported previously. We present a case of a 55-year old male with a scrotal mass ultimately diagnosed with scrotal CAF. Immunohistochemical analysis stained positively for desmin, CD34, and estrogen receptor. Our series is one of the only published to date demonstrating desmin-positive paratesticular CAF. Diagnosis of CAF remains difficult due to the sparsity of paratesticular CAF, its similar characteristics to spindle cell lipoma (SCL), and variability in immunohistochemical reporting.
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Affiliation(s)
- David Buchinsky
- Wright State University Boonshoft School of Medicine, Division of Urology, Dayton, OH, USA
| | - Gaurav Pahouja
- Wright State University Boonshoft School of Medicine, Division of Urology, Dayton, OH, USA
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8
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Khan AA, Kumar R N, Chakma S, Das S. Sarcoma diagnosis by DNA methylation classifier: A systematic review, current status and future prospects. Pathol Res Pract 2024; 263:155634. [PMID: 39383738 DOI: 10.1016/j.prp.2024.155634] [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: 06/28/2024] [Revised: 10/01/2024] [Accepted: 10/02/2024] [Indexed: 10/11/2024]
Abstract
Sarcomas, a diverse group of malignant tumors originating from connective tissues, present substantial diagnostic challenges due to their histological heterogeneity. Traditional diagnostic methods include histomorphology along with immunohistochemistry is necessary for primary evaluation. Fluorescence in situ hybridization (FISH) is a supplementary tool that helps with additional findings. However it is very difficult sometimes to accurately classify sarcoma subtypes despite all these tools. Recent advancements in DNA methylation profiling have emerged as a promising approach to enhance the precision of sarcoma diagnosis. This paper delves into the role of DNA methylation classifiers in diagnosing sarcomas, emphasizing their potential to improve diagnostic accuracy, inform treatment decisions, and ultimately enhance patient outcomes.
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Affiliation(s)
- Adil Aziz Khan
- Vardhman Mahavir & Safdarjung Hospital, New Delhi, India
| | - Naveen Kumar R
- North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India
| | - Sushanta Chakma
- Agartala Government Medical College and Hospital, Agartala, India
| | - Sumanta Das
- Agilus Diagnostics Ltd, Fortis Memorial & Research Institute, Gurugram, India.
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Bleyer M, Radespiel U, Klein A, Kollikowski A, Ströbel P, Mätz-Rensing K, Gruber-Dujardin E. Spontaneous soft tissue tumours in aged mouse lemurs (Microcebus spp). J Comp Pathol 2024; 215:47-54. [PMID: 39520914 DOI: 10.1016/j.jcpa.2024.10.001] [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: 05/08/2024] [Revised: 08/05/2024] [Accepted: 10/02/2024] [Indexed: 11/16/2024]
Abstract
Mouse lemurs (Microcebus spp) are small Madagascan strepsirrhine primates increasingly used as an animal model in ageing research. During a period of 10 years, neoplastic disease occurred in 47 grey (Microcebus murinus) and Goodman's (Microcebus lehilahtsara) mouse lemurs from a captive colony in Germany. Approximately half of these tumours appeared histologically as soft tissue tumours (STTs) with a significantly higher proportion of STTs in Goodman's mouse lemurs (87.5%) compared with grey mouse lemurs (38.5%) (P ≤0.025). Most STTs grew subcutaneously in old or senile animals and were commonly located on the trunk, less often on the head and rarely at visceral sites. The majority of STTs were of fibrous or myofibroblastic origin, followed by undifferentiated pleomorphic sarcomas and extraskeletal chondro-osseous neoplasia. Histological grading of malignant STTs revealed all but one as grade II or III, with more than 60% being grade III. Female mouse lemurs of both species were affected significantly more often by grade II and III tumours than males (P = 0.0412). This study gives a comprehensive overview of the spectrum of mesenchymal neoplastic disease in mouse lemurs and highlights some histomorphological characteristics of spontaneous STTs in this small non-human primate species.
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Affiliation(s)
- Martina Bleyer
- Pathology Unit, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany.
| | - Ute Radespiel
- Institute of Zoology, University of Veterinary Medicine Hannover, Hannover, Germany
| | - Annette Klein
- Institute of Zoology, University of Veterinary Medicine Hannover, Hannover, Germany
| | - Annika Kollikowski
- Institute of Zoology, University of Veterinary Medicine Hannover, Hannover, Germany
| | - Philipp Ströbel
- Department of Pathology, University Medical Centre, Göttingen, Germany
| | - Kerstin Mätz-Rensing
- Pathology Unit, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany
| | - Eva Gruber-Dujardin
- Pathology Unit, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany
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10
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Giraldo-Roldán D, Dos Santos GC, Araújo ALD, Nakamura TCR, Pulido-Díaz K, Lopes MA, Santos-Silva AR, Kowalski LP, Moraes MC, Vargas PA. Deep Convolutional Neural Network for Accurate Classification of Myofibroblastic Lesions on Patch-Based Images. Head Neck Pathol 2024; 18:117. [PMID: 39466448 PMCID: PMC11519240 DOI: 10.1007/s12105-024-01723-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/02/2024] [Accepted: 10/17/2024] [Indexed: 10/30/2024]
Abstract
OBJECTIVE This study aimed to implement and evaluate a Deep Convolutional Neural Network for classifying myofibroblastic lesions into benign and malignant categories based on patch-based images. METHODS A Residual Neural Network (ResNet50) model, pre-trained with weights from ImageNet, was fine-tuned to classify a cohort of 20 patients (11 benign and 9 malignant cases). Following annotation of tumor regions, the whole-slide images (WSIs) were fragmented into smaller patches (224 × 224 pixels). These patches were non-randomly divided into training (308,843 patches), validation (43,268 patches), and test (42,061 patches) subsets, maintaining a 78:11:11 ratio. The CNN training was caried out for 75 epochs utilizing a batch size of 4, the Adam optimizer, and a learning rate of 0.00001. RESULTS ResNet50 achieved an accuracy of 98.97%, precision of 99.91%, sensitivity of 97.98%, specificity of 99.91%, F1 score of 98.94%, and AUC of 0.99. CONCLUSIONS The ResNet50 model developed exhibited high accuracy during training and robust generalization capabilities in unseen data, indicating nearly flawless performance in distinguishing between benign and malignant myofibroblastic tumors, despite the small sample size. The excellent performance of the AI model in separating such histologically similar classes could be attributed to its ability to identify hidden discriminative features, as well as to use a wide range of features and benefit from proper data preprocessing.
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Affiliation(s)
- Daniela Giraldo-Roldán
- Faculdade de Odontologia de Piracicaba, Universidade de Campinas (FOP-UNICAMP), Piracicaba, São Paulo, Brazil.
- Department of Oral Diagnosis, Oral Pathology Area Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, 13.414-903, Piracicaba, São Paulo, Brazil.
| | - Giovanna Calabrese Dos Santos
- Institute of Science and Technology, Federal University of São Paulo (ICT-Unifesp), São José dos Campos, São Paulo, Brazil
| | | | - Thaís Cerqueira Reis Nakamura
- Institute of Science and Technology, Federal University of São Paulo (ICT-Unifesp), São José dos Campos, São Paulo, Brazil
| | - Katya Pulido-Díaz
- Health Care Department, Oral Pathology and Medicine Master, Autonomous Metropolitan University, Mexico City, Mexico
| | - Marcio Ajudarte Lopes
- Faculdade de Odontologia de Piracicaba, Universidade de Campinas (FOP-UNICAMP), Piracicaba, São Paulo, Brazil
| | - Alan Roger Santos-Silva
- Faculdade de Odontologia de Piracicaba, Universidade de Campinas (FOP-UNICAMP), Piracicaba, São Paulo, Brazil
| | - Luiz Paulo Kowalski
- Head and Neck Surgery Department, University of São Paulo Medical School (FMUSP), São Paulo, Brazil
- Department of Head and Neck Surgery and Otorhinolaryngology, A.C. Camargo Cancer Center, São Paulo, Brazil
| | - Matheus Cardoso Moraes
- Institute of Science and Technology, Federal University of São Paulo (ICT-Unifesp), São José dos Campos, São Paulo, Brazil
| | - Pablo Agustin Vargas
- Faculdade de Odontologia de Piracicaba, Universidade de Campinas (FOP-UNICAMP), Piracicaba, São Paulo, Brazil
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Zhao L, Ma J, Ren J, Yuan J, He H, Huang Y, Yan H. Epithelioid solitary fibrous tumors from CNS and soft tissues: an unusual morphologic variant. Diagn Pathol 2024; 19:140. [PMID: 39456068 PMCID: PMC11520129 DOI: 10.1186/s13000-024-01564-4] [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] [Accepted: 10/16/2024] [Indexed: 10/28/2024] Open
Abstract
BACKGROUND Solitary fibroous tumors (SFTs) are distinctive soft tissue tumors characterized by rearrangements of NAB2-STAT6 gene, which are associated with thin-walled, branching, "staghorn"-shaped vessels. SFTs are originally classified as a type of hemangiopericytoma (HPC). Classical SFTs are composed of spindle to ovoid cells arranged haphazardly or in fascicles. Rarely, SFTs exhibit unusual morphological variants such as fat formation, giant cells, dedifferentiation, or epithelioid variant. The epithelioid cell variant, which is composed almost entirely of epithelioid cells and arranged in solid or nest patterns, is extremely rare and frequently malignant. CASE PRESENTATION In this study, we reported three cases of epithelioid SFTs (ESFTs) located in extrathoracic sites (right lateral ventricle, right lumbar, left pelvis). All the subjects in this study were elderly, with a predominance of female patients, accounting for two out of the three cases, and only one case involved a male patient. The tumor cells were entirely composed of epithelioid cells and exhibited positive for CD34 and STAT-6 markers. Ultimately, the majority of cases (two out of three) were diagnosed as malignant SFTs. CONCLUSION This study aims to enhance the awareness of ESFTs. In these cases, irrespective of the onset location, the arrangement patterns of tumor cells, such as papillary structures and the morphology of epithelial-like cells, conspicuously lack the hallmark histological characteristics of Solitary Fibrous Tumors (SFTs). Consequently, it requires differential diagnosis from a plethora of malignant neoplasms. Moreover, the elevated malignancy level of this cohort of cases poses substantial diagnostic challenges to pathologists, compounding the complexity of accurate interpretation.
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Affiliation(s)
- Lina Zhao
- Department of Pathology, Renmin Hospital of Wuhan University, Wuhan, Hubei, 430060, China
- Department of Pathology, The Fifth Division Hospital of Xinjiang Production and Construction Corps, Xinjiang Uygur Autonomous Region, Bole, 833400, China
| | - Jiajing Ma
- Department of Digestion and Rheumatology, The Fifth Division Hospital of Xinjiang Production and Construction Corps, Xinjiang Uygur Autonomous Region, Bole, 833400, China
| | - Jiacai Ren
- Department of Pathology, Renmin Hospital of Wuhan University, Wuhan, Hubei, 430060, China
| | - Jingping Yuan
- Department of Pathology, Renmin Hospital of Wuhan University, Wuhan, Hubei, 430060, China
| | - Huihua He
- Department of Pathology, Renmin Hospital of Wuhan University, Wuhan, Hubei, 430060, China
| | - Yabing Huang
- Department of Pathology, Renmin Hospital of Wuhan University, Wuhan, Hubei, 430060, China
| | - Honglin Yan
- Department of Pathology, Renmin Hospital of Wuhan University, Wuhan, Hubei, 430060, China.
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12
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Rewari H, Wadhwa P, Talwar H, Taneja D. Anastomosing haemangioma of adrenal gland: an unusual vascular tumour. BMJ Case Rep 2024; 17:e259092. [PMID: 38670570 PMCID: PMC11057196 DOI: 10.1136/bcr-2023-259092] [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] [Indexed: 04/28/2024] Open
Abstract
With only 15 reported cases, anastomosing haemangioma of adrenal is a rare entity and usually presents as adrenal incidentaloma. A hypertensive, diabetic, non-smoker man in his late 60s presented with irritative voiding symptoms. On evaluation, he was found to have a urinary bladder mass and left adrenal incidentaloma measuring 8 cm. Metabolic evaluation confirmed it to be non-functional.The patient underwent transurethral resection of bladder tumour with left laparoscopic adrenalectomy. Intraoperatively, the adrenal tumour was highly vascular with multiple feeder vessels. Grossly it was soft, encapsulated with focal grey-brown areas. Microscopically, most of adrenal gland was replaced by anastomosing proliferating capillary vessels within framework of non-endothelial supporting cells reminiscent of splenic sinusoids. The tumour was positive for CD-31, CD-34, Glut-1 and SMA.Anastomosing haemangioma is a benign entity but it must be differentiated from angiosarcoma. Characteristic imaging features are not yet defined and is, therefore, difficult to diagnose preoperatively.
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Affiliation(s)
- Harshit Rewari
- Kidney and Urology Institute, Medanta - The Medicity, Gurugram, Haryana, India
| | - Pankaj Wadhwa
- Kidney and Urology Institute, Medanta - The Medicity, Gurugram, Haryana, India
| | | | - Divya Taneja
- Department of Histopathology, Medanta - The Medicity, Gurugram, Haryana, India
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13
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Lobo J, Harik LR, Peyton CC, Morini MA, Zein-Sabatto B, Winokur T, Zotto VD, Magi-Galluzzi C. Solitary fibrous tumours involving the genitourinary tract: a case series in rare locations, highlighting the role of STAT6 immunohistochemistry. Virchows Arch 2024; 484:697-702. [PMID: 37957341 DOI: 10.1007/s00428-023-03694-4] [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: 10/02/2023] [Revised: 10/23/2023] [Accepted: 10/30/2023] [Indexed: 11/15/2023]
Abstract
Solitary fibrous tumour (SFT) is a mesenchymal neoplasm with variable behaviour, very rarely involving the genitourinary (GU) tract. Most reported cases correspond to isolated case reports. STAT6 immunohistochemistry is a more recent and reliable diagnostic marker. The pathology database of two tertiary institutes was searched for SFTs involving the GU tract. STAT6 strong diffuse nuclear staining confirmed the diagnosis in all four cases, and the NAB2::STAT6 fusion was demonstrated by NGS in one case. Two cases were diagnosed in needle biopsy, one involving the prostate and the other involving the seminal vesicle. One case corresponded to a pelvic mass inseparable from and infiltrating the prostate and bladder. The remainder represented an exceedingly rare involvement of the spermatic cord. Involvement by a SFT should be considered in the differential diagnosis of spindle cell lesions involving GU organs. STAT6 strong diffuse nuclear staining is an important ancillary tool, particularly in a biopsy.
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Affiliation(s)
- João Lobo
- Department of Pathology, Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (P.CCC), R. Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.
- Cancer Biology and Epigenetics Group, IPO Porto Research Center (GEBC CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (P.CCC) & RISE@CI-IPOP (Health Research Network), R. Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.
- Department of Pathology and Molecular Immunology, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Rua Jorge Viterbo Ferreira 228, 4050-513, Porto, Portugal.
| | - Lara R Harik
- Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA
| | - Charles C Peyton
- Department of Urology, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA
| | | | - Bassel Zein-Sabatto
- Department of Pathology, Heersink School of Medicine The University of Alabama at Birmingham, Birmingham, AL, USA
| | - Thomas Winokur
- Department of Pathology, Heersink School of Medicine The University of Alabama at Birmingham, Birmingham, AL, USA
| | - Valeria Dal Zotto
- Department of Pathology, Heersink School of Medicine The University of Alabama at Birmingham, Birmingham, AL, USA
| | - Cristina Magi-Galluzzi
- Department of Pathology, Heersink School of Medicine The University of Alabama at Birmingham, Birmingham, AL, USA.
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14
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Baruah N, Saikia PP. Giant intrathoracic lipoblastoma in a 3-year-old child. Indian J Thorac Cardiovasc Surg 2024; 40:245-249. [PMID: 38389779 PMCID: PMC10879056 DOI: 10.1007/s12055-023-01628-y] [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: 08/13/2023] [Revised: 10/11/2023] [Accepted: 10/14/2023] [Indexed: 02/24/2024] Open
Abstract
Lipoblastoma is a rare benign tumour which originates from embryonic fat tissue mainly affecting children below 3 years of age and is exceptionally rare in the thoracic cavity. Preoperative imaging is used to assess the extent of disease and aid surgical planning but definitive diagnosis is usually by histopathological examination. Complete surgical excision is the treatment of choice. Because of the tendency for these lesions to recur, regular follow-up is mandatory even with presumed complete excision. In this study, we report the case of a 3-year-old boy who presented with a huge intrathoracic tumour occupying the whole of the left hemithorax. A complete resection of the tumour was undertaken, with histopathology report confirming the diagnosis of lipoblastoma. The relevant literature review was done. At 6 months of follow-up, there was no recurrent tumour on imaging and the child was thriving well.
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Affiliation(s)
- Nabajeet Baruah
- Department of Cardiothoracic Surgery, Cardiothoracic and Neuroscience Centre, Gauhati Medical College Hospital, Guwahati, 781032 India
| | - Partha Pratim Saikia
- Department of Cardiothoracic Surgery, Cardiothoracic and Neuroscience Centre, Gauhati Medical College Hospital, Guwahati, 781032 India
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15
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Durán-Díaz I, Sarmiento A, Fondón I, Bodineau C, Tomé M, Durán RV. A Robust Method for the Unsupervised Scoring of Immunohistochemical Staining. ENTROPY (BASEL, SWITZERLAND) 2024; 26:165. [PMID: 38392420 PMCID: PMC10888407 DOI: 10.3390/e26020165] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/25/2023] [Revised: 02/02/2024] [Accepted: 02/07/2024] [Indexed: 02/24/2024]
Abstract
Immunohistochemistry is a powerful technique that is widely used in biomedical research and clinics; it allows one to determine the expression levels of some proteins of interest in tissue samples using color intensity due to the expression of biomarkers with specific antibodies. As such, immunohistochemical images are complex and their features are difficult to quantify. Recently, we proposed a novel method, including a first separation stage based on non-negative matrix factorization (NMF), that achieved good results. However, this method was highly dependent on the parameters that control sparseness and non-negativity, as well as on algorithm initialization. Furthermore, the previously proposed method required a reference image as a starting point for the NMF algorithm. In the present work, we propose a new, simpler and more robust method for the automated, unsupervised scoring of immunohistochemical images based on bright field. Our work is focused on images from tumor tissues marked with blue (nuclei) and brown (protein of interest) stains. The new proposed method represents a simpler approach that, on the one hand, avoids the use of NMF in the separation stage and, on the other hand, circumvents the need for a control image. This new approach determines the subspace spanned by the two colors of interest using principal component analysis (PCA) with dimension reduction. This subspace is a two-dimensional space, allowing for color vector determination by considering the point density peaks. A new scoring stage is also developed in our method that, again, avoids reference images, making the procedure more robust and less dependent on parameters. Semi-quantitative image scoring experiments using five categories exhibit promising and consistent results when compared to manual scoring carried out by experts.
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Affiliation(s)
- Iván Durán-Díaz
- Signal Theory and Communications Department, University of Seville, Avda. Descubrimientos S/N, 41092 Seville, Spain
| | - Auxiliadora Sarmiento
- Signal Theory and Communications Department, University of Seville, Avda. Descubrimientos S/N, 41092 Seville, Spain
| | - Irene Fondón
- Signal Theory and Communications Department, University of Seville, Avda. Descubrimientos S/N, 41092 Seville, Spain
| | - Clément Bodineau
- Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA
- Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
| | - Mercedes Tomé
- Centro Andaluz de Biología Molecular y Medicina Regenerativa-CABIMER, Consejo Superior de Investigaciones Científicas, Universidad de Sevilla, Universidad Pablo de Olavide, 41092 Seville, Spain
| | - Raúl V Durán
- Centro Andaluz de Biología Molecular y Medicina Regenerativa-CABIMER, Consejo Superior de Investigaciones Científicas, Universidad de Sevilla, Universidad Pablo de Olavide, 41092 Seville, Spain
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16
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Mirovic M, Stojanovic MD, Jovanovic M, Stankovic V, Milosev D, Zdravkovic N, Milosevic B, Cvetkovic A, Spasic M, Vekic B, Jovanovic I, Stojanovic BS, Petrovic M, Bogut A, Peulic M, Stojanovic B. Exploring Perforated Jejunal GIST: A Rare Case Report and Review of Molecular and Clinical Literature. Curr Issues Mol Biol 2024; 46:1192-1207. [PMID: 38392194 PMCID: PMC10887764 DOI: 10.3390/cimb46020076] [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: 12/23/2023] [Revised: 01/13/2024] [Accepted: 01/24/2024] [Indexed: 02/24/2024] Open
Abstract
This case report details a rare instance of a perforated jejunal gastrointestinal stromal tumor (GIST) in a 76-year-old female patient. The patient presented with acute abdominal pain and distension without any changes in bowel habits or episodes of nausea and vomiting. Initial diagnostics, including abdominal plain radiography and ultrasonography, were inconclusive; however, a computed tomography (CT) scan revealed pneumoperitoneum and an irregular fluid collection suggestive of small intestine perforations. Surgical intervention uncovered a 35 mm jejunal GIST with a 10 mm perforation. Histopathological examination confirmed a mixed cell type GIST with high malignancy potential, further substantiated by immunohistochemistry markers CD117, DOG1, and vimentin. Molecular analysis illuminated the role of key oncogenes, primarily KIT and PDGFRA mutations, emphasizing the importance of molecular diagnostics in GIST management. Despite the severity of the presentation, the patient's postoperative recovery was favorable, highlighting the effectiveness of prompt surgical and multidisciplinary approaches in managing complex GIST cases.
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Affiliation(s)
- Milos Mirovic
- Department of General Surgery, Clinical Hospital Center Kotor, 85330 Kotor, Montenegro
| | - Milica Dimitrijevic Stojanovic
- Department of Pathology, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
- Department of Pathology, University Clinical Center Kragujevac, 34000 Kragujevac, Serbia
| | - Marina Jovanovic
- Department of Internal Medicine, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Vesna Stankovic
- Department of Pathology, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
- Department of Pathology, University Clinical Center Kragujevac, 34000 Kragujevac, Serbia
| | - Danijela Milosev
- Department of Pathology, University Clinical Center Kragujevac, 34000 Kragujevac, Serbia
| | - Natasa Zdravkovic
- Department of Internal Medicine, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Bojan Milosevic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Aleksandar Cvetkovic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Marko Spasic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Berislav Vekic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Ivan Jovanovic
- Center for Molecular Medicine and Stem Cell Research, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Bojana S Stojanovic
- Department of Pathophysiology, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Marko Petrovic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Ana Bogut
- City Medical Emergency Department, 11000 Belgrade, Serbia
| | - Miodrag Peulic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Bojan Stojanovic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
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17
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Kulkarni A, Tai R, Bledsoe J, Joshi G. Vascular leiomyoma of the thigh: Classic presentation of a rare tumor with imaging and pathology correlation. Radiol Case Rep 2023; 18:4071-4075. [PMID: 37705888 PMCID: PMC10495603 DOI: 10.1016/j.radcr.2023.08.052] [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: 01/30/2023] [Revised: 08/06/2023] [Accepted: 08/08/2023] [Indexed: 09/15/2023] Open
Abstract
We report a case of a vascular leiomyoma arising from the superficial femoral artery presenting as a non-painful thigh mass in a 55-year-old woman. Leiomyomas typically arise from the uterus and gastrointestinal tract, and rarely arise from vessels. We present this case to emphasize that although extremity leiomyomas are rare, they should be considered if there is a soft tissue mass abutting a vessel. Radiologists should be familiar with the imaging features associated with vascular leiomyomas.
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Affiliation(s)
- Ashwini Kulkarni
- Department of Radiology, Umass Chan Medical School, Umass Memorial Medical Center, 55 Lake Ave North, Worcester, MA 01655, USA
| | - Ryan Tai
- Department of Radiology, Umass Chan Medical School, Umass Memorial Medical Center, 55 Lake Ave North, Worcester, MA 01655, USA
| | - Jacob Bledsoe
- Department of Pathology, UMass Chan Medical School, UMass Memorial Medical Center, 55 Lake Ave North, Worcester, MA 01655, USA
| | - Ganesh Joshi
- Department of Radiology, Umass Chan Medical School, Umass Memorial Medical Center, 55 Lake Ave North, Worcester, MA 01655, USA
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18
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Tasaki T, Shiba E, Noguchi H, Kirishima M, Kitazono I, Terabaru W, Tabata K, Higashi M, Shinohara N, Sasaki H, Nakajo M, Nakajo M, Hisaoka M, Tanimoto A. Low-grade Fibromyxoid Sarcoma With Massive Degeneration: A Case of Unusual Gross and Histological Features. In Vivo 2023; 37:2863-2868. [PMID: 37905642 PMCID: PMC10621441 DOI: 10.21873/invivo.13404] [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: 07/27/2023] [Revised: 08/31/2023] [Accepted: 09/01/2023] [Indexed: 11/02/2023]
Abstract
BACKGROUND Low-grade fibromyxoid sarcoma (LGFMS) is a rare type of sarcoma which is observed in the soft tissue of proximal extremities, typically in young and middle-aged adults. It consists of a solid proliferation of bland spindle cells within collagenous and myxoid stroma. CASE REPORT Herein, we report a case of LGFMS with massive degeneration and hyalinization. A 30-year-old man presented with a well-circumscribed mass measuring 15 cm in diameter in his left biceps femoris muscle. Marginal tumor resection was performed under the clinical diagnosis of an ancient schwannoma or chronic expanding hematoma (CEH). The resected tissue revealed a well-demarcated tumor mass with massive degeneration and hyalinization with focal calcification. Proliferation of spindle tumor cells with abundant collagenous stroma, which resembled the fibrous capsule of CEH, was observed exclusively in a small area of the periphery of the tumor. No nuclear palisading, myxoid stroma, or collagen rosettes were identified. Immunohistochemical analysis demonstrated that the spindle tumor cells expressed mucin 4 and epithelial membrane antigen. Reverse transcriptase-polymerase chain reaction analysis detected mRNA expression of fused in sarcoma::CAMP-responsive element binding protein 3-like protein 2 (FUS::CREB3L2) fusion gene. Thus, a final diagnosis of LGFMS with massive degeneration and FUS::CREB3L2 fusion was made. CONCLUSION The recognition of massive degeneration and hyalinization as unusual features of LGFMS might be helpful to differentiate it from CEH and other benign spindle-cell tumors.
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Affiliation(s)
- Takashi Tasaki
- Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Eisuke Shiba
- Department of Pathology, University of Occupational and Environmental Health, Kitakyushu, Japan
| | - Hirotsugu Noguchi
- Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Mari Kirishima
- Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Ikumi Kitazono
- Department of Surgical Pathology, Kagoshima University Hospital, Kagoshima, Japan
| | - Wataru Terabaru
- Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
- Department of Basic Pathology, National Defense Medical College, Tokorozawa, Japan
| | - Kazuhiro Tabata
- Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Michiyo Higashi
- Department of Surgical Pathology, Kagoshima University Hospital, Kagoshima, Japan
| | - Naohiro Shinohara
- Department of Orthopedic Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Hiromi Sasaki
- Department of Orthopedic Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Masanori Nakajo
- Department of Radiology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Masatoyo Nakajo
- Department of Radiology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
| | - Masanori Hisaoka
- Department of Pathology, University of Occupational and Environmental Health, Kitakyushu, Japan
| | - Akihide Tanimoto
- Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan;
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19
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Khandelwal S, Parihar P, Dhande R, Sood A. Chronic Lower Limb Pain Unveiling a Rare Case of Spindle Cell Soft Tissue Sarcoma: A Diagnostic Odyssey. Cureus 2023; 15:e48634. [PMID: 38090440 PMCID: PMC10711347 DOI: 10.7759/cureus.48634] [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: 10/24/2023] [Accepted: 11/09/2023] [Indexed: 09/20/2024] Open
Abstract
Spindle cell soft tissue sarcomas are rare and challenging malignancies that tend to masquerade as benign conditions. This case report presents a 70-year-old female who sought medical attention due to persistent right lower limb pain and swelling over one year. Despite prior consultations at private clinics, her symptoms continued to progress. A tender, palpable swelling was noted upon examination, prompting further diagnostic investigations. Initial X-ray results yielded inconclusive findings, necessitating an MRI study with contrast. The MRI unveiled a substantial multi-lobulated spindle-shaped mass lesion exhibiting heterogeneous enhancement and altered signal intensity, measuring 7.3 x 2.5 x 2.2 centimeters. Additional nodular lesions in the periarticular region posterior to the ankle joint confirmed the diagnostic suspicion of spindle cell sarcoma, supported by orthopedic evaluation. Symptomatic management was initiated with analgesics and antibiotics, alongside a recommendation for biopsy. Histopathological examination of the biopsy specimen confirmed the presence of spindle cell soft tissue sarcoma under high magnification. This case underscores the diagnostic challenges of spindle cell sarcomas and the imperative role of a multidisciplinary approach in their accurate diagnosis and management.
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Affiliation(s)
- Shreya Khandelwal
- Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND
| | - Pratap Parihar
- Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND
| | - Rajasbala Dhande
- Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND
| | - Anshul Sood
- Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND
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20
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Koyuncuer A. Role of intraoperative touch imprint cytology and immunohistochemistry in the diagnosis of metastatic malignancies in the central nervous system: Cyto-histomorphological findings and differential diagnosis. Diagn Cytopathol 2023; 51:612-628. [PMID: 37435815 DOI: 10.1002/dc.25192] [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: 05/31/2023] [Revised: 06/24/2023] [Accepted: 06/26/2023] [Indexed: 07/13/2023]
Abstract
BACKGROUND Brain metastases (BMs) are intracranial neoplasms that are more common in adults than primary brain tumors, causing significant mortality and morbidity in cancer patients. This study aimed to evaluate the definitive histopathological diagnosis using touch imprint cytology and the importance and use of immunohistochemistry in the diagnosis of primary origin. METHOD Cytological, paraffin section, and immunohistochemical study slides of all metastatic brain tumors consecutively consulted at the pathology department between 2018 and 2023 were evaluated. The sensitivity, specificity, and accuracy of patients' diagnostic results who underwent imprint cytology were compared based on the final diagnosis histopathological report. RESULTS A total of 45 patients with and without intraoperative consultation were included in the study. The definitive histopathologic diagnosis and the diagnostic accuracy rate of imprint cytology for distinguishing glial and metastatic tumors on paraffin sections was 100%. Immunohistochemistry was performed in all patients (except one patient; immediate exitus) and histological classification of the primary tumor was performed by analysis of clinical findings and biomarkers. The primary origins of metastatic tumors were often lung and breast, with adenocarcinoma subtype histomorphology, cerebral hemispheres, and discrete foci of metastasis. CONCLUSION TPs is a simple and rapid technique that supports diagnosis in intraoperative neuropathology and is a very cost-effective procedure. The pathologist's experience is the key factor in the diagnosis and reduces the need for a frozen section. In our series, the final histopathologic correlation of imprint cytology in the diagnosis of primary and metastatic tumors is 100%.
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Affiliation(s)
- Ali Koyuncuer
- Department of Pathology, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey
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21
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Meşină C, Obleagă CV, Ciorbagiu MC, Vere CC, Popescu DM, Popescu FC, Cristian DA, Meşină-Botoran MI. Solitary fibrous tumor developing in the right retroperitoneal space. ROMANIAN JOURNAL OF MORPHOLOGY AND EMBRYOLOGY = REVUE ROUMAINE DE MORPHOLOGIE ET EMBRYOLOGIE 2023; 64:587-594. [PMID: 38184840 PMCID: PMC10863682 DOI: 10.47162/rjme.64.4.16] [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: 08/25/2023] [Accepted: 12/04/2023] [Indexed: 01/09/2024]
Abstract
Solitary fibrous tumor (SFT) is a rare mesenchymal tumor that is quite aggressive and prone to recurrence and metastasis. Most SFTs are benign, but the identification of the histological features that define the dedifferentiation of SFTs can predict the aggressiveness of the tumor and the presence of a reserved prognosis. We present a rare case of conventional SFTs with features of malignancy and highlight the diagnostic and therapeutic difficulties related to this case. Computed tomography aspect suggested a possible gastrointestinal stromal tumor. Surgical intervention was performed through median laparotomy and a tumor of approximately 15∕12 cm was found, developed from the level of the right retroperitoneal space, and pushing anteriorly the ascending colon, cecum, and terminal ileum. The immunohistochemical aspect correlated with the histopathological one suggests a SFT most likely malignant. In conclusion, the early diagnosis of SFTs is essential in establishing an appropriate treatment. Immunohistochemistry is indispensable in establishing the diagnosis of SFTs.
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Affiliation(s)
- Cristian Meşină
- Department of Surgery, University of Medicine and Pharmacy of Craiova, Romania
- Department of Surgery, Emergency County Hospital, Craiova, Romania
| | - Cosmin Vasile Obleagă
- Department of Surgery, University of Medicine and Pharmacy of Craiova, Romania
- Department of Surgery, Emergency County Hospital, Craiova, Romania
| | - Mihai Călin Ciorbagiu
- Department of Surgery, University of Medicine and Pharmacy of Craiova, Romania
- Department of Surgery, Emergency County Hospital, Craiova, Romania
| | - Cristin Constantin Vere
- Department of Gastroenterology, University of Medicine and Pharmacy of Craiova, Romania
- Department of Gastroenterology, Emergency County Hospital, Craiova, Romania
| | - Dragoş Marian Popescu
- Department of Extreme Conditions Medicine, University of Medicine and Pharmacy of Craiova, Romania
| | | | - Daniel Alin Cristian
- Department of Surgery, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
- Department of Surgery, Colţea Clinical Hospital, Bucharest, Romania
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22
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Thompson LDR, Xu B. Top Ten Differentials to Mull Over for Head and Neck Myoepithelial Neoplasms. Head Neck Pathol 2023; 17:1-15. [PMID: 36928733 PMCID: PMC10063767 DOI: 10.1007/s12105-022-01502-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2022] [Accepted: 09/27/2022] [Indexed: 03/18/2023]
Abstract
BACKGROUND Myoepithelial neoplasms of the salivary gland are benign or malignant neoplasms composed exclusively of neoplastic myoepithelial cells. These tumors, including the benign myoepithelioma and the malignant counterpart myoepithelial carcinoma, exhibit a wide range of cytomorphologic features and architectural patterns. METHODS Review. RESULTS Myoepithelial cells can be epithelial, plasmacytoid, clear cell, spindle cell, and/or oncocytic cell, arranging as trabeculae, solid sheets, nests, cords, and/or single cells. A stromal component is commonly but not universally present, Therefore, their differential diagnoses are quite broad, including salivary gland neoplasms especially those with a myoepithelial component, plasmacytoma, melanoma, and various mesenchymal tumors. CONCLUSION In this review, we summarize the characteristic histologic features, useful immunohistochemical panel, and common molecular alterations of myoepithelial tumors and their top differential diagnoses. A logical stepwise algorithmic approach and an immunohistochemical panel to include multiple myoepithelial markers are essential to establish the correct diagnosis.
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Affiliation(s)
- Lester D. R. Thompson
- Head and Neck Pathology Consultations, 22543 Ventura Blvd, Ste 220 PMB1034, 91364 Woodland Hills, CA USA
| | - Bin Xu
- Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY USA
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23
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Hemerková P, Matulová H, Vališ M, Soukup J, Kanta M, Jandura J. Synovial sarcoma of the tibial nerve - case report of a rare tumor in a rare location requiring early diagnosis. BMC Neurol 2023; 23:65. [PMID: 36765281 PMCID: PMC9912578 DOI: 10.1186/s12883-023-03061-5] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/06/2022] [Accepted: 12/15/2022] [Indexed: 02/12/2023] Open
Abstract
BACKGROUND We present the case of a patient with a rare synovial sarcoma (SS) of the tibial nerve. So far, only 4 cases of patients with SS originating from the tibial nerve have been described in the literature, and our patient is only the second patient whose limb was saved during treatment. Synovial sarcomas are malignant mesenchymal tumors, i.e., tumors arising from connective tissue. Synovial sarcomas account for 5-10% of all soft tissue sarcomas. However, the name synovial sarcoma is misleading, because the tumor does not originate from synovial cells, but rather from primitive mesenchymal cells. The name most likely originated from the localization around the large joints on the limbs, more often on the lower ones, in the area of the knee joints. We point out the aspects of correct and quick diagnosis and subsequent treatment, which has very important effect on the patient's prognosis. Primary less radical excision without prior biopsy verification leads to a higher risk of local recurrence, even if a proper reexcision was performed immediately after biopsy verification of the sarcoma. CASE PRESENTATION A woman born in 1949 began to suffer at the end of 2020 with escalating pain under the left inner ankle with a projection to the sole and fingers. Her personal, family work and social history were insignificant. After the initial neurological examination, the patient was sent for an ultrasound examination of the ankle, which showed a lobular mass measuring 50 × 22 × 16 mm and according magnetic resonance imaging, the finding appeared to be a suspicious neurinoma of the tibial nerve. The tumor was surgically excised, without prior biopsy verification: a 50 × 20 mm tumor was dissected in the distal part of the tarsal canal, which grew through the structure of the tibial nerve and in some places into the surrounding area and appeared intraoperatively as a neurofibroma. But histologically the tumor was classified as monophasic synovial sarcoma. The patient was indicated for a wide reexcision of the skin with the subcutaneous tissue of size 91 × 20 × 15 mm. Now the patient is being treated with external radiotherapy to the tumor bed and she is able to walk. CONCLUSION This report draws attention to a rare type of malignant nerve tumor, which both clinically and radiologically can mimic benign peripheral nerve sheath tumors. Synovial sarcoma should be considered in very painful resistances, typically located around the joints of the lower limbs, the growth of which can be slow. Because the size of the tumor is a negative prognostic factor, it is necessary to make a timely diagnosis using MR imaging and a biopsy with histological examination and to start treatment quickly. Surgical treatment should take place only after a biopsy with histological examination of the tumor so that it is sufficiently radical and does not have to undergo an additional reoperation, as happened in the case of our patient.
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Affiliation(s)
- Pavlína Hemerková
- Department of Neurology, University Hospital Hradec Králové, Hradec Králové, Czech Republic.
| | - Hana Matulová
- Department of Neurology, University Hospital Hradec Králové, Hradec Králové, Czech Republic
| | - Martin Vališ
- Department of Neurology, University Hospital Hradec Králové, Hradec Králové, Czech Republic
| | - Jiří Soukup
- The Fingerland department of Pathology, University Hospital Hradec Králové, Hradec Králové, Czech Republic
| | - Martin Kanta
- Department of Neurosurgery, University Hospital Hradec Králové, Hradec Králové, Czech Republic
| | - Jiří Jandura
- Department of Radiology, University Hospital Hradec Králové, Hradec Králové, Czech Republic
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Connolly EA, Grimison PS, Horvath LG, Robinson PJ, Reddel RR. Quantitative proteomic studies addressing unmet clinical needs in sarcoma. Front Oncol 2023; 13:1126736. [PMID: 37197427 PMCID: PMC10183589 DOI: 10.3389/fonc.2023.1126736] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/18/2022] [Accepted: 03/31/2023] [Indexed: 05/19/2023] Open
Abstract
Sarcoma is a rare and complex disease comprising over 80 malignant subtypes that is frequently characterized by poor prognosis. Challenges in clinical management include uncertainties in diagnosis and disease classification, limited prognostic and predictive biomarkers, incompletely understood disease heterogeneity among and within subtypes, lack of effective treatment options, and limited progress in identifying new drug targets and novel therapeutics. Proteomics refers to the study of the entire complement of proteins expressed in specific cells or tissues. Advances in proteomics have included the development of quantitative mass spectrometry (MS)-based technologies which enable analysis of large numbers of proteins with relatively high throughput, enabling proteomics to be studied on a scale that has not previously been possible. Cellular function is determined by the levels of various proteins and their interactions, so proteomics offers the possibility of new insights into cancer biology. Sarcoma proteomics therefore has the potential to address some of the key current challenges described above, but it is still in its infancy. This review covers key quantitative proteomic sarcoma studies with findings that pertain to clinical utility. Proteomic methodologies that have been applied to human sarcoma research are briefly described, including recent advances in MS-based proteomic technology. We highlight studies that illustrate how proteomics may aid diagnosis and improve disease classification by distinguishing sarcoma histologies and identify distinct profiles within histological subtypes which may aid understanding of disease heterogeneity. We also review studies where proteomics has been applied to identify prognostic, predictive and therapeutic biomarkers. These studies traverse a range of histological subtypes including chordoma, Ewing sarcoma, gastrointestinal stromal tumors, leiomyosarcoma, liposarcoma, malignant peripheral nerve sheath tumors, myxofibrosarcoma, rhabdomyosarcoma, synovial sarcoma, osteosarcoma, and undifferentiated pleomorphic sarcoma. Critical questions and unmet needs in sarcoma which can potentially be addressed with proteomics are outlined.
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Affiliation(s)
- Elizabeth A. Connolly
- ProCan, Children’s Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia
- Department of Medical Oncology, Chris O’Brien Lifehouse, Sydney, NSW, Australia
- *Correspondence: Elizabeth A. Connolly,
| | - Peter S. Grimison
- Department of Medical Oncology, Chris O’Brien Lifehouse, Sydney, NSW, Australia
- Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia
| | - Lisa G. Horvath
- Department of Medical Oncology, Chris O’Brien Lifehouse, Sydney, NSW, Australia
- Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia
| | - Phillip J. Robinson
- ProCan, Children’s Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia
| | - Roger R. Reddel
- ProCan, Children’s Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia
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Soft Tissue Tumours—Study of a Short Panel of 8 Immunohistochemical Markers. Indian J Surg 2022. [DOI: 10.1007/s12262-022-03656-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022] Open
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Hrycaj SM, Szczepanski JM, Zhao L, Siddiqui J, Thomas DG, Lucas DR, Patel RM, Harms PW, Bresler SC, Chan MP. PRAME expression in spindle cell melanoma, malignant peripheral nerve sheath tumour, and other cutaneous sarcomatoid neoplasms: a comparative analysis. Histopathology 2022; 81:818-825. [PMID: 36102613 PMCID: PMC9828653 DOI: 10.1111/his.14797] [Citation(s) in RCA: 18] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2022] [Revised: 09/10/2022] [Accepted: 09/12/2022] [Indexed: 01/12/2023]
Abstract
Diagnosis of spindle cell/sarcomatoid melanoma may be challenging due to frequent loss of expression of melanocytic marker(s) and histomorphologic resemblance to various mesenchymal tumours, particularly malignant peripheral nerve sheath tumour (MPNST). Overexpression of PReferentially expressed Antigen in MElanoma (PRAME) supports a diagnosis of melanoma when evaluating challenging melanocytic tumours. PRAME expression in MPNST and other cutaneous sarcomatoid neoplasms, however, has not been well characterised. We aimed to determine the utility of PRAME immunostain in distinguishing spindle cell melanoma from MPNST and other sarcomatoid mimics. PRAME expression was scored by extent (0 to 4+) and intensity (0 to 3) of staining. A strong positive correlation was observed between the extent and intensity scores (r = 0.84). An extent score of 4+, defined by staining in 76-100% of tumour cells, was seen in 56% (23/41) of spindle cell melanomas, 18% (7/38) of MPNSTs, 15% (4/27) of cutaneous sarcomatoid squamous cell carcinomas (SCCs), 33% (5/15) of poorly differentiated cutaneous angiosarcomas, 12% (4/33) of atypical fibroxanthomas (AFXs), 4% (1/25) of pleomorphic dermal sarcomas (PDSs), and none (0/16) of the high-grade cutaneous leiomyosarcomas. A significant difference was found between spindle cell melanoma and all other examined sarcomatoid neoplasms except angiosarcoma. While diffuse (and often strong) PRAME expression is more frequently observed in spindle cell melanoma than MPNST, sarcomatoid SCC, AFX, PDS, and high-grade leiomyosarcoma, its limited sensitivity and specificity caution against its use as a standalone diagnostic marker. PRAME may complement other epigenetic or lineage-specific markers and should only be used as part of an immunohistochemical panel when evaluating these sarcomatoid neoplasms.
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Affiliation(s)
| | | | - Lili Zhao
- Department of BiostatisticsUniversity of MichiganAnn ArborMIUSA
| | - Javed Siddiqui
- Department of PathologyUniversity of MichiganAnn ArborMIUSA
| | | | - David R Lucas
- Department of PathologyUniversity of MichiganAnn ArborMIUSA
| | - Rajiv M Patel
- Department of PathologyUniversity of MichiganAnn ArborMIUSA,Department of DermatologyUniversity of MichiganAnn ArborMIUSA
| | - Paul W Harms
- Department of PathologyUniversity of MichiganAnn ArborMIUSA,Department of DermatologyUniversity of MichiganAnn ArborMIUSA
| | - Scott C Bresler
- Department of PathologyUniversity of MichiganAnn ArborMIUSA,Department of DermatologyUniversity of MichiganAnn ArborMIUSA
| | - May P Chan
- Department of PathologyUniversity of MichiganAnn ArborMIUSA,Department of DermatologyUniversity of MichiganAnn ArborMIUSA
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Fukami T, Shiozaki A, Kosuga T, Kudou M, Shimizu H, Ohashi T, Arita T, Konishi H, Komatsu S, Kubota T, Fujiwara H, Okamoto K, Kishimoto M, Morinaga Y, Konishi E, Otsuji E. Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer. World J Gastroenterol 2022; 28:4649-4667. [PMID: 36157935 PMCID: PMC9476871 DOI: 10.3748/wjg.v28.i32.4649] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/28/2022] [Revised: 06/10/2022] [Accepted: 07/27/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Anoctamin 5 (ANO5)/transmembrane protein 16E belongs to the ANO/ transmembrane protein 16 anion channel family. ANOs comprise a family of plasma membrane proteins that mediate ion transport and phospholipid scrambling and regulate other membrane proteins in numerous cell types. Previous studies have elucidated the roles and mechanisms of ANO5 activation in various cancer types. However, it remains unclear whether ANO5 acts as a plasma membrane chloride channel, and its expression and functions in gastric cancer (GC) have not been investigated.
AIM To examine the role of ANO5 in the regulation of tumor progression and clinicopathological significance of its expression in GC.
METHODS Knockdown experiments using ANO5 small interfering RNA were conducted in human GC cell lines, and changes in cell proliferation, cell cycle progression, apoptosis, and cellular movement were assessed. The gene expression profiles of GC cells were investigated following ANO5 silencing by microarray analysis. Immunohistochemical staining of ANO5 was performed on 195 primary tumor samples obtained from patients with GC who underwent curative gastrectomy between 2011 and 2013 at our department.
RESULTS Reverse transcription-quantitative polymerase chain reaction (PCR) and western blotting demonstrated high ANO5 mRNA and protein expression, respectively, in NUGC4 and MKN45 cells. In these cells, ANO5 silencing inhibited cell proliferation and induced apoptosis. In addition, the knockdown of ANO5 inhibited G1-S phase progression, invasion, and migration. The results of the microarray analysis revealed changes in the expression levels of several cyclin-associated genes, such as CDKN1A, CDK2/4/6, CCNE2, and E2F1, in ANO5-depleted NUGC4 cells. The expression of these genes was verified using reverse transcription-quantitative PCR. Immunohistochemical staining revealed that high ANO5 expression levels were associated with a poor prognosis. Multivariate analysis identified high ANO5 expression as an independent prognostic factor for 5-year survival in patients with GC (P = 0.0457).
CONCLUSION ANO5 regulates the cell cycle progression by regulating the expression of cyclin-associated genes and affects the prognosis of patients with GC. These results may provide insights into the role of ANO5 as a key mediator in tumor progression and/or promising prognostic biomarker for GC.
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Affiliation(s)
- Tomoyuki Fukami
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Atsushi Shiozaki
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Toshiyuki Kosuga
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Michihiro Kudou
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Hiroki Shimizu
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Takuma Ohashi
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Tomohiro Arita
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Hirotaka Konishi
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Shuhei Komatsu
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Takeshi Kubota
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Hitoshi Fujiwara
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Kazuma Okamoto
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Mitsuo Kishimoto
- Department of Pathology, Kyoto City Hospital, Kyoto 604-8845, Japan
| | - Yukiko Morinaga
- Department of Pathology, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Eiichi Konishi
- Department of Pathology, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
| | - Eigo Otsuji
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan
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Mathew R, Sethi A, Flint AT, Omman R, House J. A Case of Undifferentiated Pleomorphic Sarcoma. Cureus 2022; 14:e26153. [PMID: 35747109 PMCID: PMC9211378 DOI: 10.7759/cureus.26153] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 06/21/2022] [Indexed: 12/01/2022] Open
Abstract
Suspicion for soft tissue malignancy of the hand is usually low because most tumors of the hand are small and benign. We present a case of an elderly female who presented with a rapidly enlarging, ulcerating hand mass over a few months. She was diagnosed with undifferentiated pleomorphic sarcoma (UPS), a high-grade, aggressive soft-tissue sarcoma. Computed tomography (CT) of the chest was conducted for staging purposes. It showed multiple subcentimeter pulmonary nodules, findings that were initially worrisome for metastatic disease but later proved to be newly and incidentally diagnosed granulomatous disease of the lungs. This case highlights the importance of early recognition of potential malignancy in soft-tissue tumors of the hand to facilitate proper referral and initiation of appropriate oncologic therapies. Due to early diagnosis and intervention, our patient had locally advanced disease without metastasis, a type of cancer known to have a high degree of metastatic potential.
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Hollis RL, Croy I, Churchman M, Bartos C, Rye T, Gourley C, Herrington CS. Ovarian carcinosarcoma is a distinct form of ovarian cancer with poorer survival compared to tubo-ovarian high-grade serous carcinoma. Br J Cancer 2022; 127:1034-1042. [PMID: 35715633 PMCID: PMC9470739 DOI: 10.1038/s41416-022-01874-8] [Citation(s) in RCA: 12] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/01/2022] [Revised: 05/18/2022] [Accepted: 05/30/2022] [Indexed: 11/09/2022] Open
Abstract
Background Ovarian carcinosarcoma (OCS) is an uncommon, biphasic and highly aggressive ovarian cancer type, which has received relatively little research attention. Methods We curated the largest pathologically confirmed OCS cohort to date, performing detailed histopathological characterisation, analysis of features associated with survival and comparison against high-grade serous ovarian carcinoma (HGSOC). Results Eighty-two OCS patients were identified; overall survival was poor (median 12.7 months). In all, 79% demonstrated epithelial components of high-grade serous (HGS) type, while 21% were endometrioid. Heterologous elements were common (chondrosarcoma in 32%, rhabdomyosarcoma in 21%, liposarcoma in 2%); chondrosarcoma was more frequent in OCS with endometrioid carcinomatous components. Earlier stage, complete resection and platinum-containing adjuvant chemotherapy were associated with prolonged survival; however, risk of relapse and mortality was high across all patient groups. Histological subclassification did not identify subgroups with distinct survival. Compared to HGSOC, OCS patients were older (P < 0.0001), more likely to be FIGO stage I (P = 0.025), demonstrated lower chemotherapy response rate (P = 0.001) and had significantly poorer survival (P < 0.0001). Conclusion OCS represents a distinct, highly lethal form of ovarian cancer for which new treatment strategies are urgently needed. Histological subclassification does not identify patient subgroups with distinct survival. Aggressive adjuvant chemotherapy should be considered for all cases, including those with early-stage disease.
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Affiliation(s)
- Robert L Hollis
- The Nicola Murray Centre for Ovarian Cancer Research, Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, Scotland, UK.
| | - Ian Croy
- The Nicola Murray Centre for Ovarian Cancer Research, Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, Scotland, UK
| | - Michael Churchman
- The Nicola Murray Centre for Ovarian Cancer Research, Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, Scotland, UK
| | - Clare Bartos
- The Nicola Murray Centre for Ovarian Cancer Research, Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, Scotland, UK
| | - Tzyvia Rye
- The Nicola Murray Centre for Ovarian Cancer Research, Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, Scotland, UK
| | - Charlie Gourley
- The Nicola Murray Centre for Ovarian Cancer Research, Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, Scotland, UK
| | - C Simon Herrington
- The Nicola Murray Centre for Ovarian Cancer Research, Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, Scotland, UK
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Seo SJ, Park JY, Park HJ, Hwang JT. Protocatechuic acid impacts rotator cuff healing and reduces fatty degeneration in a chronic rotator cuff tear model in rats. Clin Shoulder Elb 2022; 25:5-14. [PMID: 35045600 PMCID: PMC8907501 DOI: 10.5397/cise.2021.00395] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2021] [Accepted: 08/10/2021] [Indexed: 11/25/2022] Open
Abstract
Background The purpose of this study was to verify the effect of protocatechuic acid (PCA) on tendon healing and fatty degeneration in a chronic rotator cuff model. Methods Twenty-eight Sprague-Dawley male rats were randomly allocated into two groups: Saline+repair (SR) and PCA+repair (PR). The right shoulder was used for experimental interventions, and the left served as a control. PCA (30 mg/kg/day) was administered intraperitoneally at the site of infraspinatus tendon detachment in rats in the PR group, and the same volume of saline was administered to the same site in the SR group. The torn tendon was repaired 4 weeks after infraspinatus detachment. Four weeks after repair, hematoxylin and eosin (H&E), S100, and CD68 stains were performed to evaluate the degree of fatty degeneration and H&E and Masson trichrome stains were performed to assess tendon healing. Superoxide dismutase (SOD) was measured to test the efficacy of PCA as an antioxidant. Results Results from histological evaluation indicated that SOD and CD68 levels at the musculotendinous region and collagen fiber parallel to the orientation at the tendon-to-bone junction were not significantly different between the SR and PR groups. The mean load-to-failure of the PR group (20.32±9.37 N) was higher than that of the SR group (16.44±6.90 N), although this difference was not statistically significant (p=0.395). The SOD activity in the operative side infraspinatus muscle of the PR group was higher than that of the SR group, but the difference was not statistically significant (p=0.053). Conclusions The use of PCA could improve tendon healing and decrease fatty degeneration after rotator cuff repair.
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Affiliation(s)
- Su-Jung Seo
- Department of Orthopedic Surgery, Hallym University College of Medicine, Chuncheon, Korea
| | - Jae-Young Park
- Department of Pathology, Bucheon Sejong Hospital, Bucheon, Korea
| | - Hyoung-Jin Park
- Department of Physiology, Hallym University College of Medicine, Chuncheon, Korea
| | - Jung-Taek Hwang
- Department of Orthopedic Surgery, Hallym University Chuncheon Sacred Heart Hospital, Hallym University College of Medicine, Chuncheon, Korea
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Agrawal N, Handa U, Bhagat R, Gupta S. Fine needle aspiration cytology of dermatofibrosarcoma protuberans arising in a burn scar. Cytopathology 2021; 33:266-268. [PMID: 34689359 DOI: 10.1111/cyt.13071] [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: 05/30/2021] [Revised: 09/12/2021] [Accepted: 10/16/2021] [Indexed: 11/29/2022]
Abstract
Tumours developing after a protracted period of time in burn scars are a notable complication with carcinomas forming a major share. The occurrence of burn scar sarcomas is scarce with dermatofibrosarcoma protuberans (DFSP) being an uncommon entity having only three prior reported cases. Herein we report a case of a 32-year-old male patient with a 5 year prior history of thermal burn who presented with an expanding painless swelling for 2 years in the right flank region, diagnosed as DFSP on fine needle aspiration cytology and subsequently confirmed on histopathology.
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Affiliation(s)
- Nandini Agrawal
- Department of Pathology, Government Medical College and Hospital, Chandigarh, India
| | - Uma Handa
- Department of Pathology, Government Medical College and Hospital, Chandigarh, India
| | - Ranjeev Bhagat
- Department of Pathology, Government Medical College and Hospital, Chandigarh, India
| | - Sanjay Gupta
- Department of General Surgery, Government Medical College and Hospital, Chandigarh, India
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Outside the Thorax: Doege-Potter Syndrome Presenting as a Retroperitoneal Abdominal Mass. Case Rep Endocrinol 2021; 2021:9919321. [PMID: 34104499 PMCID: PMC8159632 DOI: 10.1155/2021/9919321] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/11/2021] [Revised: 05/02/2021] [Accepted: 05/08/2021] [Indexed: 11/17/2022] Open
Abstract
Objective We present a case of refractory hypoglycemia, weight loss, and retroperitoneal solitary fibrous tumor. Case report. A 68-year-old female presented with symptomatic hypoglycemia, weight loss, and abdominal mass identified on CT scan of the abdomen. Blood work during symptomatic hypoglycemia was consistent with an IGF-2-producing tumor. The abdominal mass pathology was consistent with solitary fibrous tumor surrounding the adrenal gland, and resection resulted in complete resolution of hypoglycemia. Discussion. Understanding the biochemical mechanisms behind glucose regulation is necessary to diagnose and adequately treat Doege–Potter syndrome, a paraneoplastic syndrome observed in patients with solitary fibrous tumors. Solitary fibrous tumors can be characterized by specific histologic and immunohistochemical studies. Conclusion This report describes the clinical workup of a patient presenting with hypoglycemia and a retroperitoneal tumor. This case is unique because of its presentation with severe, refractory hypoglycemia and the tumor's location in the retroperitoneum, given the majority of solitary fibrous tumors are found in the lungs originating from the pleura.
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Tariq MU, Din NU, Abdul-Ghafar J, Park YK. The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior. Diagn Pathol 2021; 16:32. [PMID: 33879215 PMCID: PMC8059036 DOI: 10.1186/s13000-021-01095-2] [Citation(s) in RCA: 95] [Impact Index Per Article: 23.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2021] [Accepted: 04/12/2021] [Indexed: 12/17/2022] Open
Abstract
Background Solitary Fibrous Tumor (SFT) is a distinct soft tissue neoplasm associated with NAB2-STAT6 gene fusion. It can involve a number of anatomic sites and exhibits a wide spectrum of histological features. Main body Apart from diversity in morphological features seen even in conventional SFT, two histologic variants (fat-forming and giant cell-rich) are also recognized. In addition, a malignant form and dedifferentiation are well recognized. Owing to diverse histological features and involvement of diverse anatomic locations, SFT can mimic other soft tissue neoplasms of different lineages including schwannoma, spindle cell lipoma, dermatofibrosarcoma protuberans, liposarcoma, gastrointestinal stromal tumor (GIST), malignant peripheral nerve sheath tumor (MPNST), and synovial sarcoma. SFT is classified as an intermediate (rarely metastasizing) tumor according to World Health Organization Classification of Tumors of Soft tissue and Bone, 5th edition. The management and prognosis of SFT differs from its malignant mimics and correct diagnosis is therefore important. Although SFT expresses a distinct immunohistochemical (IHC) profile, the classic histomorphological and IHC profile is not seen in all cases and diagnosis can be challenging. NAB2-STAT6 gene fusion has recently emerged as a sensitive and specific molecular marker and its IHC surrogate marker signal transducer and activator of transcription 6 (STAT6) has also shown significant sensitivity and specificity. However, few recent studies have reported STAT6 expression in other soft tissue neoplasms. Conclusion This review will focus on describing the diversity of histological features of SFT, differential diagnoses and discussing the features helpful in distinguishing SFT from its histological mimics.
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Affiliation(s)
- Muhammad Usman Tariq
- Section of Histopathology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan
| | - Nasir Ud Din
- Section of Histopathology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan
| | - Jamshid Abdul-Ghafar
- Department of Pathology and Clinical Laboratory, French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan.
| | - Yong-Koo Park
- Emeritus Professor, Kyung Hee University, School of Medicine Vice President of Asia, International Academy of Pathology, U2Labs, Jangwon Medical Foundation 68 Geoma-ro, Songpa-gu, Seoul, 05755, South Korea
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Immunohistochemistry in Bone and Soft Tissue Tumours. Sarcoma 2021. [DOI: 10.1007/978-981-15-9414-4_8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/22/2022] Open
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Clinicopathological features to distinguish malignant solitary fibrous tumors of the prostate from prostatic stromal tumors. Virchows Arch 2020; 478:619-626. [PMID: 32820389 DOI: 10.1007/s00428-020-02909-2] [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: 05/06/2020] [Revised: 07/27/2020] [Accepted: 08/10/2020] [Indexed: 10/23/2022]
Abstract
Mesenchymal tumors of the prostate are rare but encompass a wide differential diagnosis. In our study, we aimed to investigate the clinicopathological features that can be used to differentiate malignant solitary fibrous tumors (mSFTs) occurring in the prostate from prostatic stromal tumors. A total of 15 patients with mesenchymal tumors of the prostate were identified in Nanjing Drum Tower Hospital from 2009 to 2019, including 3 mSFTs, 9 stromal tumors of uncertain malignant potential (STUMPs), and 3 prostatic stromal sarcomas (PSSs). Immunohistochemical stains for signal transducer and activator of transcription 6 (STAT6), aldehyde dehydrogenase 1 (ALDH1), CD34, desmin, smooth muscle actin (SMA), progesterone receptor (PR), CD117, and cytokeratin (CK) were performed on representative sections from each tumor, and the clinical features, histology, and immunophenotype of these three groups were analyzed. There was no significant difference in mean patient age of patients diagnosed with mSFTs, STUMPs, and PSSs. mSFTs and PSSs showed significantly increased tumor size (p < 0.05), Ki-67 proliferation index (p < 0.0001), and mitotic activity (p < 0.05) when compared with STUMPs. mSFTs showed significantly higher expression of STAT6 compared with both PSSs and STUMPs (p < 0.0001, p < 0.0001). PR showed significantly more expression in STUMPs than in mSFTs or PSSs (p < 0.0001, p < 0.0001). Desmin and SMA showed significantly more expression in STUMPs than in mSFTs (p < 0.05). ALDH1, CD117, CK, and CD34 showed no significant difference in staining between mSFTs, STUMPs, and PSSs. Therefore, a limited panel of STAT6, PR, and Ki-67 may be useful in distinguishing between mSFTs, STUMPs, and PSSs.
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Jebastin Thangaiah J, Hanley K, Nomani L, Policarpio-Nicolas ML. Cytologic features and immunohistochemical findings of epithelioid hemangioendothelioma (EHE) in effusion: A case series. Diagn Cytopathol 2020; 49:E24-E30. [PMID: 32797671 DOI: 10.1002/dc.24565] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2020] [Revised: 07/08/2020] [Accepted: 07/14/2020] [Indexed: 01/20/2023]
Abstract
BACKGROUND Epithelioid hemangioendothelioma (EHE) is a rare malignant vascular tumor characterized by WWTR1-CAMTA1, t (1:3) (p36;q25) translocation in 90% of cases. Without prior EHE history, it can mimic other malignant effusions. Recently, CAMTA1 was published as an excellent immunohistochemical surrogate marker for molecular testing for WWTR1-CAMTA1 fusion in surgical specimens. METHODS A 6-year retrospective search using our computer system was performed for cases diagnosed as EHE on effusion cytology and surgical specimens. The clinical presentation, cytologic findings and immunohistochemical stain results, including CAMTA1 were reviewed. RESULTS Four pleural and one peritoneal effusions were identified. The median age was 52 years with a female to male ratio of 3:2. Most patients presented with pulmonary symptoms. The cytologic features were non-specific easily mimicking other malignancies; especially in the absence of known prior malignancy. This was exemplified by one of our cases which was initially misdiagnosed as adenocarcinoma. Intracytoplasmic erythrocytes were present only on the cell blocks but not on cytology. The cytology cell blocks from patients with prior EHE confirmed on surgical biopsies stained positive for vascular markers (CD31, ERG) and CAMTA1. CONCLUSION The features of EHE in effusion are non-specific and a diagnostic pitfall in cytology. In the absence of prior EHE diagnosis, inclusion of this entity in the differential diagnoses and application of immunohistochemical stain panels will be prudent in avoiding a misdiagnosis. However, in cases with prior EHE diagnosis, CAMTA1 could serve as diagnostic marker; especially on limited cytology material. Additional studies will be helpful in supporting our results.
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Affiliation(s)
- Judith Jebastin Thangaiah
- Cleveland Clinic, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland, Ohio, USA
| | - Kelly Hanley
- Department of Pathology, CORPath, Ltd., Columbus, Ohio, USA
| | - Laila Nomani
- Department of Pathology, Loyola University Medical Center, Maywood, Illinois, USA
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Szumera-Ciećkiewicz A, Bosisio F, Teterycz P, Antoranz A, Delogu F, Koljenović S, van de Wiel BA, Blokx W, van Kempen LC, Rutkowski P, Christopher van Akkooi A, Cook M, Massi D. SOX10 is as specific as S100 protein in detecting metastases of melanoma in lymph nodes and is recommended for sentinel lymph node assessment. Eur J Cancer 2020; 137:175-182. [PMID: 32781392 DOI: 10.1016/j.ejca.2020.06.037] [Citation(s) in RCA: 22] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/05/2020] [Revised: 05/22/2020] [Accepted: 06/29/2020] [Indexed: 12/13/2022]
Abstract
BACKGROUND Sentinel lymph node (SLN) biopsy remains crucial for melanoma staging. The European Organisation for Research and Treatment of Cancer Melanoma Group recommends performing immunohistochemical stainings for reproducible identification of melanoma metastases. S100 protein (pS100) is a commonly used melanocytic antigen because of its high sensitivity in spite of relatively low specificity. SRY-related HMG-box 10 protein (SOX10) is a transcription factor characterising neural crest-derived cells. It is uniformly expressed mostly in the nuclei of melanocytes, neural, and myoepithelial cells. Pathologists sometimes prefer SOX10 as a melanoma marker, but it has not yet been investigated on a large-scale to confirm that it is reliable and recommendable for routine SLN evaluation. METHODS Four hundred one treatment-naïve lymph node (LN) metastatic melanomas were included in high-density tissue microarrays and were assessed for the presence of SOX10 and pS100 by immunohistochemistry. The slides were digitalised, shared and evaluated by a panel of experienced melanoma pathologists. RESULTS The vast majority of melanomas were double-positive for pS100 and SOX10 (93.2%); a small percentage of the cases (3.9%) were double-negative melanomas. Discordance between the two markers was observed: 1.9% pS100(-)/SOX10(+) and 0.75% pS100(+)/SOX10(-). SOX10 was not expressed by immune cell types in the LN, resulting in a less controversial interpretation of the staining. CONCLUSIONS SOX10 is as equally specific as pS100 for the detection of melanoma metastases in LNs. The interpretation of SOX10 staining is highly reproducible among different centres and different pathologists because of the absence of staining of immune cells.
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Affiliation(s)
- Anna Szumera-Ciećkiewicz
- Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland; Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine Warsaw, Poland.
| | - Francesca Bosisio
- Laboratory of Translational Cell and Tissue Research and Pathology Department, KU Leuven and UZ Leuven, Leuven, Belgium
| | - Paweł Teterycz
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
| | - Asier Antoranz
- Laboratory of Translational Cell and Tissue Research and Pathology Department, KU Leuven and UZ Leuven, Leuven, Belgium
| | - Francesco Delogu
- Department of Health Sciences, Clinical Pharmacology and Oncology Unit, University of Florence, Florence, Italy
| | - Senada Koljenović
- Department of Pathology, Erasmus MC, University Medical Centre Rotterdam, the Netherlands
| | - Bart A van de Wiel
- Department of Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
| | - Willeke Blokx
- Department of Pathology, Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Center, Utrecht, the Netherlands
| | - Léon C van Kempen
- Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
| | - Piotr Rutkowski
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
| | | | - Martin Cook
- Histopathology, Royal Surrey County Hospital, Guildford, UK
| | - Daniela Massi
- Section of Pathological Anatomy, Department of Health Sciences, University of Florence, Florence, Italy
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An Algorithmic Immunohistochemical Approach to Define Tumor Type and Assign Site of Origin. Adv Anat Pathol 2020; 27:114-163. [PMID: 32205473 DOI: 10.1097/pap.0000000000000256] [Citation(s) in RCA: 50] [Impact Index Per Article: 10.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/17/2022]
Abstract
Immunohistochemistry represents an indispensable complement to an epidemiology and morphology-driven approach to tumor diagnosis and site of origin assignment. This review reflects the state of my current practice, based on 15-years' experience in Pathology and a deep-dive into the literature, always striving to be better equipped to answer the age old questions, "What is it, and where is it from?" The tables and figures in this manuscript are the ones I "pull up on the computer" when I am teaching at the microscope and turn to myself when I am (frequently) stuck. This field is so exciting because I firmly believe that, through the application of next-generation immunohistochemistry, we can provide better answers than ever before. Specific topics covered in this review include (1) broad tumor classification and associated screening markers; (2) the role of cancer epidemiology in determining pretest probability; (3) broad-spectrum epithelial markers; (4) noncanonical expression of broad tumor class screening markers; (5) a morphologic pattern-based approach to poorly to undifferentiated malignant neoplasms; (6) a morphologic and immunohistochemical approach to define 4 main carcinoma types; (7) CK7/CK20 coordinate expression; (8) added value of semiquantitative immunohistochemical stain assessment; algorithmic immunohistochemical approaches to (9) "garden variety" adenocarcinomas presenting in the liver, (10) large polygonal cell adenocarcinomas, (11) the distinction of primary surface ovarian epithelial tumors with mucinous features from metastasis, (12) tumors presenting at alternative anatomic sites, (13) squamous cell carcinoma versus urothelial carcinoma, and neuroendocrine neoplasms, including (14) the distinction of pheochromocytoma/paraganglioma from well-differentiated neuroendocrine tumor, site of origin assignment in (15) well-differentiated neuroendocrine tumor and (16) poorly differentiated neuroendocrine carcinoma, and (17) the distinction of well-differentiated neuroendocrine tumor G3 from poorly differentiated neuroendocrine carcinoma; it concludes with (18) a discussion of diagnostic considerations in the broad-spectrum keratin/CD45/S-100-"triple-negative" neoplasm.
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Li J, Chekkoury A, Prakash J, Glasl S, Vetschera P, Koberstein-Schwarz B, Olefir I, Gujrati V, Omar M, Ntziachristos V. Spatial heterogeneity of oxygenation and haemodynamics in breast cancer resolved in vivo by conical multispectral optoacoustic mesoscopy. LIGHT, SCIENCE & APPLICATIONS 2020; 9:57. [PMID: 32337021 PMCID: PMC7154032 DOI: 10.1038/s41377-020-0295-y] [Citation(s) in RCA: 39] [Impact Index Per Article: 7.8] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/28/2019] [Revised: 02/10/2020] [Accepted: 03/19/2020] [Indexed: 05/11/2023]
Abstract
The characteristics of tumour development and metastasis relate not only to genomic heterogeneity but also to spatial heterogeneity, associated with variations in the intratumoural arrangement of cell populations, vascular morphology and oxygen and nutrient supply. While optical (photonic) microscopy is commonly employed to visualize the tumour microenvironment, it assesses only a few hundred cubic microns of tissue. Therefore, it is not suitable for investigating biological processes at the level of the entire tumour, which can be at least four orders of magnitude larger. In this study, we aimed to extend optical visualization and resolve spatial heterogeneity throughout the entire tumour volume. We developed an optoacoustic (photoacoustic) mesoscope adapted to solid tumour imaging and, in a pilot study, offer the first insights into cancer optical contrast heterogeneity in vivo at an unprecedented resolution of <50 μm throughout the entire tumour mass. Using spectral methods, we resolve unknown patterns of oxygenation, vasculature and perfusion in three types of breast cancer and showcase different levels of structural and functional organization. To our knowledge, these results are the most detailed insights of optical signatures reported throughout entire tumours in vivo, and they position optoacoustic mesoscopy as a unique investigational tool linking microscopic and macroscopic observations.
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Affiliation(s)
- Jiao Li
- School of Precision Instruments and Optoelectronics Engineering, Tianjin University, No.92, Weijin Road, Nankai District, 300072 Tianjin, China
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Andrei Chekkoury
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Jaya Prakash
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
- Department of Instrumentation and Applied Physics, Indian Institute of Science Bangalore, CV Raman Rd, Bengaluru, 560012 Karnataka India
| | - Sarah Glasl
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Paul Vetschera
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Benno Koberstein-Schwarz
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Ivan Olefir
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Vipul Gujrati
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Murad Omar
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
| | - Vasilis Ntziachristos
- Institute of Biological and Medical Imaging, Helmholtz Zentrum München, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany
- Chair of Biological Imaging, TranslaTUM, Technische Universität München, Ismaningerstr. 22, D-81675 Munich, Germany
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Saggini A, Cerroni L, Casini B, Baciorri F, Cota C. Primary intrafascial desmoplastic melanoma with pseudoglandular differentiation and aberrant cytokeratins expression: An exceptional presentation. Pathol Res Pract 2019; 215:152668. [DOI: 10.1016/j.prp.2019.152668] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/04/2019] [Revised: 09/22/2019] [Accepted: 09/24/2019] [Indexed: 11/25/2022]
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Caballero GA, Roitman PD. Pseudomyogenic Hemangioendothelioma (Epithelioid Sarcoma-Like Hemangioendothelioma). Arch Pathol Lab Med 2019; 144:529-533. [DOI: 10.5858/arpa.2018-0395-rs] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
Pseudomyogenic hemangioendothelioma (PMH) is a rare vascular tumor that presents more frequently in young adults and has a male predominance. It is usually located in the superficial or deep soft tissues of the extremities, but concurrent bone involvement can be present. In approximately two-thirds of patients this disease is multifocal, often involving multiple tissue planes. It is a relapsing lesion with low metastatic potential. Given its clinical and morphologic characteristics (multifocality, epithelioid morphology, absence of clearly evident vascular differentiation on hematoxylin-eosin slides), PMH can be easily misinterpreted as other lesions, often with radically different treatment and prognosis. For this reason, we think it is important to recognize this entity, which has some unique features. Here, we will briefly describe the clinical and pathologic features of PMH, detailing its more relevant differential diagnoses.
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Affiliation(s)
- Gustavo A. Caballero
- From the Pathology Department, Italian Hospital of Buenos Aires, Buenos Aires, Argentina
| | - Pablo D. Roitman
- From the Pathology Department, Italian Hospital of Buenos Aires, Buenos Aires, Argentina
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42
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Muko D, Ikenaga T, Kasai M, Rabor JB, Nishitani A, Niidome Y. Imaging mass spectrometry of gold nanoparticles in a tissue section as an immunohistochemical staining mass probe. JOURNAL OF MASS SPECTROMETRY : JMS 2019; 54:1-6. [PMID: 30221808 DOI: 10.1002/jms.4290] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/23/2018] [Revised: 08/16/2018] [Accepted: 09/10/2018] [Indexed: 06/08/2023]
Abstract
For analysis of low abundance peptides in a tissue section, immunohistochemical staining through antibody-antigen interaction is a usual technique. The antibody is conjugated with a probe moiety that aids in highly sensitive detection. Gold nanoparticles, which show excellent chemical stability and variation of surface modifications, are expected to act as a sensitive mass probe to desorb gold ions (Au+ , Au2 + , Au3 + ) that are distinguishable from fragment ions from organic molecules. Here, green fluorescent proteins (GFP) in a tissue section of a transgenic zebrafish were detected by the gold mass probe conjugated with antibodies. Due to the efficient ionization and desorption of gold ions, imaging mass spectrometry of Au2 + ions indicated the distribution of gold nanoparticles stained in a tissue section, and the mass signal distribution was consistent with the area where the GFP-expressing cells were distributed. Conventional immunofluorescence techniques showed intense autofluorescence that come from intrinsic fluorophores in the tissue section. In contrast, the gold nanoparticles acted as an immunostaining mass probe that displayed significantly lower background signals.
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Affiliation(s)
- Daiki Muko
- Department of Chemistry and Bioscience, Graduate School of Science and Engineering, Kagoshima University, 1-21-35 Korimoto, Kagoshima, Japan
| | - Takanori Ikenaga
- Department of Chemistry and Bioscience, Graduate School of Science and Engineering, Kagoshima University, 1-21-35 Korimoto, Kagoshima, Japan
| | - Masanori Kasai
- Department of Chemistry and Bioscience, Graduate School of Science and Engineering, Kagoshima University, 1-21-35 Korimoto, Kagoshima, Japan
| | - Janice B Rabor
- Department of Chemistry and Bioscience, Graduate School of Science and Engineering, Kagoshima University, 1-21-35 Korimoto, Kagoshima, Japan
| | - Atsushi Nishitani
- Division of Gene Research, Research Support Centre, Kagoshima University, 1-21-35 Korimoto, Kagoshima, Japan
| | - Yasuro Niidome
- Department of Chemistry and Bioscience, Graduate School of Science and Engineering, Kagoshima University, 1-21-35 Korimoto, Kagoshima, Japan
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Ronchi A, Panarese I, Aquino G, Gambardella A, Franco R, Cozzolino I. Synovial sarcoma diagnosis on fine needle cytology sample confirmed by fluorescence in situ hybridisation. Cytopathology 2018; 30:314-317. [DOI: 10.1111/cyt.12651] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/05/2018] [Revised: 10/23/2018] [Accepted: 10/24/2018] [Indexed: 11/28/2022]
Affiliation(s)
- Andrea Ronchi
- Division of Pathology Department of Mental and Physical Health and Preventive Medicine Università degli Studi della Campania “Luigi Vanvitelli” Naples Italy
| | - Iacopo Panarese
- Division of Pathology Department of Mental and Physical Health and Preventive Medicine Università degli Studi della Campania “Luigi Vanvitelli” Naples Italy
| | - Gabriella Aquino
- Pathology Unit Istituto Nazionale Tumori I. R. C. C. S. “Fondazione Pascale” Naples Italy
| | - Antonio Gambardella
- Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences Università Degli Studi Della Campania “Luigi Vanvitelli” Naples Italy
| | - Renato Franco
- Division of Pathology Department of Mental and Physical Health and Preventive Medicine Università degli Studi della Campania “Luigi Vanvitelli” Naples Italy
| | - Immacolata Cozzolino
- Division of Pathology Department of Mental and Physical Health and Preventive Medicine Università degli Studi della Campania “Luigi Vanvitelli” Naples Italy
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González-Delgado VA, Cordero-Romero P, Monteagudo C, Ramón-Quiles MD. Red crateriform tumour on the scalp. Clin Exp Dermatol 2018; 44:540-542. [PMID: 30353622 DOI: 10.1111/ced.13815] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/01/2018] [Indexed: 11/30/2022]
Affiliation(s)
- V A González-Delgado
- Department of Dermatology, Hospital Clínico Universitario de Valencia, Valencia, Spain
| | - P Cordero-Romero
- Department of Dermatology, Hospital Clínico Universitario de Valencia, Valencia, Spain
| | - C Monteagudo
- Department of Pathology, Hospital Clínico Universitario de Valencia, Valencia, Spain
| | - M D Ramón-Quiles
- Department of Dermatology, Hospital Clínico Universitario de Valencia, Valencia, Spain
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Lu G, Shi W, Zheng H. Inhibition of STAT6/Anoctamin-1 Activation Suppresses Proliferation and Invasion of Gastric Cancer Cells. Cancer Biother Radiopharm 2018; 33:3-7. [PMID: 29466035 DOI: 10.1089/cbr.2017.2287] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022] Open
Abstract
BACKGROUND Gastric carcinoma is the most popular cancer worldwide. Anoctamin-1 is a calcium-activated channel and highly expressed in various tumors. A previous study indicated that suppressed Anoctamin-1 expression decreased cancer cell proliferation or migration. As a signal transduction and transcription activator, STAT6 is a novel agonist for Anoctamin-1 promoter. However, its role in tumor cell proliferation or migration remains unclear. Therefore, this study aimed to suppress STAT6 and Anoctamin-1 protein expression in gastric cancer cells to test the inhibitory effects on gastric cancer cell migration or invasion. MATERIALS AND METHODS MTT colorimetry was used to test cell proliferation. Western blot was used to measure STAT6 and Anoctamin-1 expression before and after small interfering RNA (siRNA) treatment. A scratch assay was performed to measure cell migration, followed by Transwell chamber assay analysis of cell invasion. RESULTS After STAT6 siRNA interference, the expression of STAT6 and Anoctamin-1 was significantly decreased in the gastric carcinoma cell line. Anoctamin-1 siRNA interference only decreased its protein expression, but not STAT6 protein expression. Interference of STAT6 or Anoctamin-1 reduced their protein expression and inhibited proliferation, migration, or invasion of gastric cancer cells. CONCLUSIONS Inhibition of STAT6/Anoctamin-1 activation decreased proliferation, migration, or invasion of gastric cancer cells, suggesting that the STAT6/Anoctamin-1 pathway might be a novel target for treating gastric cancer.
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Affiliation(s)
- Guohao Lu
- 1 Department of Emergency, The People's Hospital of Guangxi Zhuang Autonomous Region , Nanning, China
| | - Wanling Shi
- 2 Department of Ultrasound, The People's Hospital of Guangxi Zhuang Autonomous Region , Nanning, China
| | - Hongyu Zheng
- 2 Department of Ultrasound, The People's Hospital of Guangxi Zhuang Autonomous Region , Nanning, China
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Upadhyaya SA, McGee RB, Wilky BA, Broniscer A. Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer 2018. [PMID: 29512865 PMCID: PMC5980703 DOI: 10.1002/pbc.27030] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
Malignant progression of a benign or low-grade tumor in individuals with germline alteration of SMARCB1 gene is not well characterized. In a family in which two carrier children had germline SMARCB1 mutations and atypical teratoid rhabdoid tumor, we report malignant progression of a nerve sheath tumor over a 7-year period in an affected adult family member. Prompt identification of the germline SMARCB1 alteration and the resultant rhabdoid tumor predisposition syndrome can help guide genetic counseling and surveillance in affected family members.
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Affiliation(s)
| | - Rose B. McGee
- Department of Oncology, Division of Cancer Predisposition, St. Jude Children’s Research Hospital, Memphis, TN
| | - Breelyn A. Wilky
- Department of Oncology, University of Miami Miller School of Medicine, Miami, FL
| | - Alberto Broniscer
- Department of Pediatrics, Children’s Hospital of Pittsburgh, Pittsburgh, PA
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Wang L, Zhao XY, Zhu JS, Chen NW, Fan HN, Yang W, Guo JH. CCR7 regulates ANO6 to promote migration of pancreatic ductal adenocarcinoma cells via the ERK signaling pathway. Oncol Lett 2018; 16:2599-2605. [PMID: 30013654 DOI: 10.3892/ol.2018.8962] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/21/2017] [Accepted: 11/11/2017] [Indexed: 12/26/2022] Open
Abstract
The increase in migratory ability of pancreatic ductal adenocarcinoma cells is a key event in the development of metastasis to the lymph nodes and distant organs. Although the C-C motif chemokine receptor 7 (CCR7) and its ligand, C-C motif chemokine ligand 21 (CCL21), have been revealed to serve an important role in tumor migration, their precise roles and potential underlying mechanisms remain largely unknown. The present study revealed that overexpression of CCR7 significantly promoted BxPC-3 cell migration, accompanied by the induction of anoctamin 6 (ANO6) expression, indicating that ANO6 is a downstream target of CCR7 signaling. Furthermore, the level of phosphorylated extracellular signal-regulated kinase (ERK) was significantly increased in CCR7-overexpressing BxPC-3 cells, indicating that ERK may be a potential mediator of CCR7-regulated ANO6 expression in BxPC-3 cells. To characterize the receptor-mediated pathway, a specific ERK inhibitor, U0126, was used, which reduced BxPC-3 cell migration and the expression of ANO6. In summary, the results of the present study demonstrate that CCR7 promoted BxPC-3 cell migration by regulating ANO6 expression perhaps via activation of the ERK signaling pathway.
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Affiliation(s)
- Long Wang
- Department of Gastroenterology, Shanghai Jiao Tong University Affiliated Shanghai Sixth People's Hospital, Shanghai 200233, P.R. China
| | - Xiang-Yun Zhao
- Department of Gastroenterology, Shanghai Jiao Tong University Affiliated Shanghai Sixth People's Hospital, Shanghai 200233, P.R. China
| | - Jin-Shui Zhu
- Department of Gastroenterology, Shanghai Jiao Tong University Affiliated Shanghai Sixth People's Hospital, Shanghai 200233, P.R. China
| | - Ni-Wei Chen
- Department of Gastroenterology, Shanghai Jiao Tong University Affiliated Shanghai Sixth People's Hospital, Shanghai 200233, P.R. China
| | - Hui-Ning Fan
- Department of Gastroenterology, Shanghai Jiao Tong University Affiliated Shanghai Sixth People's Hospital, Shanghai 200233, P.R. China
| | - Wei Yang
- Department of Laboratory, Shanghai Jiao Tong University Affiliated Shanghai Sixth People's Hospital, Shanghai 200233, P.R. China
| | - Jing-Hui Guo
- Department of Gastroenterology, Shanghai Jiao Tong University Affiliated Shanghai Sixth People's Hospital, Shanghai 200233, P.R. China
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Sbaraglia M, Dei Tos AP. The pathology of soft tissue sarcomas. Radiol Med 2018; 124:266-281. [PMID: 29948548 DOI: 10.1007/s11547-018-0882-7] [Citation(s) in RCA: 37] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/16/2018] [Accepted: 03/29/2018] [Indexed: 12/27/2022]
Abstract
Soft tissue sarcomas represent a heterogeneous group of rare malignancies exhibiting mesenchymal differentiation with an overall incidence of around 5/100,000/year. Rarity and morphologic heterogeneity significantly affect diagnostic accuracy; therefore, expertise can be achieved only through access to large number of cases. Soft tissue sarcomas are currently classified on the basis of the 2013 WHO classification of soft tissue tumors that integrate conventional morphology with immunohistochemistry and molecular genetics. The morphologic diagnosis of sarcoma relies on the evaluation as well as the integration of four main features: the shape of the neoplastic cells; the pattern of growth; the quality of the background; the architecture of the vascular network. Immunohistochemical characterization plays a key role in the diagnostic workup of soft tissue sarcomas. The majority of classic differentiation markers tend to show good sensitivity, however, associated with rather limited specificity, making interpretation in context with morphology mandatory. Molecular genetics is increasingly used for diagnostic purposes to distinguish specific subtypes of sarcomas, to support diagnosis in non-canonical clinical presentations and also to distinguish true sarcomas from benign mimickers. With many exceptions, histologic typing does not provide sufficient information for predicting the clinical course of the disease and, therefore, grading systems based on histological parameters were introduced to provide a more accurate estimation of the degree of malignancy of tumors. The three-tiered system devised by the French Federation of Cancer Centers Sarcoma Group (FNCLCC) systems is widely adopted; however, several limitations exist that have led to the development of prognostic nomograms that incorporate the specific histotype as one of the relevant parameters.
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Affiliation(s)
- Marta Sbaraglia
- Department of Pathology, Azienda ULSS 2 "Marca Trevigiana", Piazza Ospedale, 1, 31100, Treviso, Italy
| | - Angelo P Dei Tos
- Department of Pathology, Azienda ULSS 2 "Marca Trevigiana", Piazza Ospedale, 1, 31100, Treviso, Italy.
- Department of Medicine, University of Padua School of Medicine, Padua, Italy.
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Ronchi A, Cozzolino I, Zito Marino F, Accardo M, Montella M, Panarese I, Roccuzzo G, Toni G, Franco R, De Chiara A. Extrapleural solitary fibrous tumor: A distinct entity from pleural solitary fibrous tumor. An update on clinical, molecular and diagnostic features. Ann Diagn Pathol 2018; 34:142-150. [PMID: 29660566 DOI: 10.1016/j.anndiagpath.2018.01.004] [Citation(s) in RCA: 96] [Impact Index Per Article: 13.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/22/2017] [Revised: 01/04/2018] [Accepted: 01/08/2018] [Indexed: 02/08/2023]
Abstract
Solitary fibrous tumor (SFT) is a mesenchymal neoplasm that was originally described to be localized in the pleura, but thereafter, this has been reported in several anatomic sites. Although the etiology of the neoplasm remains largely unknown, the pathogenesis seems to be related to an NAB2-STAT6 fusion gene due to paracentric inversion on chromosome 12q13. The diagnosis of extrapleural SFT is challenging, owing to its rarity, and requires an integrated approach that includes specific clinical, histological, immunohistochemical, and even molecular findings. Histologically, extrapleural SFT shares morphological features same as those of the pleural SFT because it is characterized by a patternless distribution of both oval- and spindle-shaped cells in a variable collagen stroma. In addition, morphological variants of mixoid, fat-forming, and giant cell-rich tumors are described. A correct diagnosis is mandatory for a proper therapy and management of the patients with extrapleural SFT, as extrapleural SFT is usually more aggressive than pleural form, particularly cases occurring in the mediastinum, retroperitoneum, pelvis, and meninges. Although SFT is usually considered as a clinically indolent neoplasm, the prognosis is substantially unpredictable and only partially related to morphological features. In this context, cellularity, neoplastic borders, cellular atypias, and mitotic activity can show a wide range of variability. We review extrapleural SFT by discussing diagnostic clues, differential diagnosis, recent molecular findings, and prognostic factors.
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Affiliation(s)
- Andrea Ronchi
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Immacolata Cozzolino
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Federica Zito Marino
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Marina Accardo
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Marco Montella
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Iacopo Panarese
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Giuseppe Roccuzzo
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Giorgio Toni
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy
| | - Renato Franco
- Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, Università degli Studi della Campania "Luigi Vanvitelli", via Luciano Armanni 20, 80100 Naples, Italy.
| | - Annarosaria De Chiara
- Pathology Unit, Department in Support of Oncology Paths, Diagnostic Area, Istituto Nazionale dei Tumori I.R.C.C.S. Fondazione "Pascale", via Mariano Semmola 52, 80131 Naples, Italy
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50
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Kalampokas E, Payne F, Nomikos A, Gurumurthy M. An update on the use of immunohistochemistry and molecular pathology in the diagnosis of pre-invasive and malignant lesions in gynecological oncology. Gynecol Oncol 2018; 150:378-386. [PMID: 29792263 DOI: 10.1016/j.ygyno.2018.05.023] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/27/2018] [Revised: 05/12/2018] [Accepted: 05/14/2018] [Indexed: 11/16/2022]
Abstract
OBJECTIVE One of the most common challenges in everyday clinical practice of gynecological oncology is to identify the type and the primary origin of a tumor. This is a crucial step in the management, treatment, prognosis, and survival of patients suffering from a gynecological malignancy. Immunohistochemistry has been widely adopted over the last three decades in pathology laboratories all over the world. Recent advances in our understanding of the differentiation of gynecological tumors based on immunohistochemical expression have resulted in use of immunohistochemistry as a major diagnostic tool in gynecology, for precise tumor classification. More recently, advances in molecular pathology, have taken this disease sub-classification further resulting in more effective personalised treatment regimens. The aim of this review is to provide clinicians with up to date information on the various immunohistochemical and molecular tests used in the diagnosis of gynecological malignancies of the female genital tract and an understanding of how to interpret them. METHODS We performed a review of the current literature including review articles, original research articles, and guidelines on various immunohistochemical markers and molecular techniques which are used for the differential diagnosis of gynecologic malignancies. CONCLUSIONS Immunohistochemistry is useful as an objective means for improved diagnostic reproducibility, accuracy, and precise classification in cases where the diagnosis with histochemical stains is inconclusive, providing a more reliable estimate of clinical outcomes. The diagnosis, in some cases, can be further refined by the use of molecular techniques leading to personalised medical treatments.
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Affiliation(s)
| | - Fiona Payne
- Department of Pathology, Aberdeen Royal Infirmary, United Kingdom
| | - Angheliki Nomikos
- Department of Pathology, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom
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