Primary lymphedema (i.e., a chronic condition characterized by the accumulation of protein-rich fluid in the interstitial spaces due to impaired lymphatic drainage) and lipomatosis of nerve (LN) (i.e., a congenital lesion characterized by the presence of fat interspersed within nerve) can involve a significant overgrowth of the affected limb, but their pathophysiology and treatment are totally different. This report addresses the misdiagnosis of both entities. The purpose is to highlight how both entities can be differentiated through two case reports. The first patient, a 69-year-old man, presented in our lymphedema clinic with multiple debulking operations; he was diagnosed with right upper extremity lymphedema during childhood. The thumb, index, and middle fingers had previously been amputated due to sequelae from the bony overgrowth. MRI of the right upper extremity showed pathognomonic features of LN affecting the median nerve associated with soft tissue fatty overgrowth. He had a 3 months follow-up for this condition in our institution during which his symptoms remained stable. The second patient, an 81-year-old man, presented in our lymphedema clinic. He carried a long time diagnosis of primary left lower extremity lymphedema and had been followed at our institution for more than 25 years. Physical examination revealed overgrowth (increased volume) affecting the entire leg and foot. MRI showed pathognomonic features of LN of the left sciatic nerve. No surgical interventions were performed. At the last follow-up, his extremity showed slightly worsened diameter measurements. Based on our 2 cases presented and 2 additional cases identified in the literature, we believe that primary lymphedema and LN are two different entities that could be confused. Plastic surgeons treating patients with lymphedema should be aware of LN and rule out this condition clinically and with imaging (US or MRI).

Inflammatory myofibroblastic tumours (IMTs) of the uterine cervix are extremely rare, benign mesenchymal neoplasms, characterized by the proliferation of myofibroblasts within an inflammatory background. IMTs most commonly occur in the lungs and abdomen, and their occurrence in the female genital tract, particularly the uterine cervix, is exceedingly rare. The optimal management of these tumours remains under investigation due to the limited number of reported cases.

This literature review aims to provide an overview of the clinical presentation, diagnostic challenges and management strategies of uterine cervical IMTs. This review focuses on the roles of histopathology, immunohistochemistry (IHC) and molecular analysis in diagnosing these tumours, and discusses treatment outcomes and follow-up strategies.

A comprehensive review of the literature was conducted using PubMed, Google Scholar and other relevant databases. Relevant case reports and studies published between 2000 and 2024 were included. The primary outcomes assessed were clinical presentation, diagnostic features, treatment modalities and recurrence/metastasis rates.

Eleven reports of IMTs of the uterine cervix were identified in the literature search, and six of these were included in this review. Clinical presentation primarily includes abnormal uterine bleeding (AUB), often with symptoms of menorrhagia and dysmenorrhoea. Imaging studies and histopathological examination play key roles in diagnosis, with IHC markers such as smooth muscle actin, desmin and anaplastic lymphoma kinase (ALK)-1 being used frequently. Surgical resection remains the mainstay of treatment, with some cases also benefiting from targeted therapy for recurrent or metastatic disease.

IMTs of the uterine cervix are rare but are increasingly recognized in clinical practice. They are typically benign with a low risk of malignancy, although local recurrence is possible, especially in cases of incomplete resection. Diagnosis relies heavily on histopathological and molecular analysis, with ALK gene rearrangements being an important molecular finding. While surgical excision remains the primary treatment, ongoing research into targeted therapies, including ALK inhibitors, offers promising avenues for management. This review emphasizes the need for long-term follow-up given the potential for recurrence.

The prognostic role of systemic inflammatory biomarkers in patients with chondrosarcoma remains unclear, and evidence is lacking. The modified Glasgow Prognostic Score (mGPS) is an inflammation-based prognostic score consisting of preoperative CRP and albumin. This has been validated for a number of carcinomas and soft-tissue sarcoma, where its use is recommended. This national multicentre study aimed to investigate the prognostic significance of preoperative systemic inflammatory biomarkers, primarily the mGPS, in the prediction of survival in patients with a chondrosarcoma.

Patients who had undergone an elective resection of a primary or secondary chondrosarcoma between January 2006 and December 2020 were identified from the prospectively maintained databases of seven collaborating UK bone sarcoma units. Laboratory and clinical data, as well as oncological outcomes, were collected from the patient records with a minimum of two years of follow-up. Data were analyzed using Kaplan-Meier survival and uni- and multivariate analysis.

A total of 549 patients were included in our study. We found that increased mGPS, tumour grade, size, age, local recurrence, metastasis, and inflammatory markers were significantly associated with reduced overall survival. mGPS was able to stratify the overall survival of patients in all grades of chondrosarcoma, especially when divided into mGPS score 0 versus mGPS 1 or 2.

Our findings indicate that inflammatory markers and mGPS strongly correlate with the survival of patients with a chondrosarcoma. We recommend its use in their early assessment to better stratify prognosis, reinforce decision-making, and potentially improve outcomes.

Fibrosarcoma is a rare, invasive soft tissue sarcoma that is more common in males aged 30-60 years. It accounts for 1% of all malignancies in the human body. Treatment is radical surgical removal, radiotherapy, and chemotherapy.

A 58-year-old Khorasani Persian male patient with a complaint of expansion, pain, and paresthesia in the left maxillary quadrant was diagnosed with infiltrative high-grade sarcoma. Tumoral cells were strongly diffuse positive for vimentin and negative for S100 and desmin, indicating high-grade adult fibrosarcoma.

This report presents a rare case of a fibrosarcoma causing paresthesia, pain, and expansion in the maxilla with maxillary sinus invasion, which requires early diagnosis and immediate referral.

To develop a multiclass radiomics model for differentiating chondroid bone tumors using preoperative MRI.

This retrospective study included 120 patients (92 enchondromas, 16 low-grade chondrosarcomas, and 12 intermediate-to-high-grade chondrosarcomas) who underwent contrast-enhanced MRI between 2009 and 2019. Tumor segmentation was manually performed by a musculoskeletal radiologist and validated by a senior radiologist. We used least absolute shrinkage and selection operator (LASSO) and random forest (RF) for feature selection and classification, with and without synthetic minority oversampling technique (SMOTE). Model performance was evaluated using five-fold cross-validation with average precision, accuracy, area under the curve (AUC), and weighted kappa statistics.

The LASSO + RF model based on all sequences achieved the highest accuracy (0.826 ± 0.065) and AUC (0.967 ± 0.027). The highest mAP (0.750 ± 0.095) was observed in the SMOTE-enhanced T2WI-based model, highlighting the potential impact of class imbalance. Quadratic weighted kappa values ranged from 0.648 to 0.731 across models, indicating substantial agreement with pathological results.

Preoperative MRI-based radiomics provides a robust method for the classification of chondroid bone tumors, potentially enhancing clinical decision-making.

Metastasis, the leading cause of cancer-related deaths, underscores the critical need to understand its regulatory mechanisms to improve prevention and treatment strategies for late-stage tumors. Hematogenous dissemination is a key route of metastasis. However, as the gatekeeper of vessels, the role of pericytes in hematogenous metastasis remains largely unknown. In this review, we comprehensively explore the contributions of pericytes throughout the metastatic cascade, particularly their functions that extend beyond influencing tumor angiogenesis. Pericytes should not be perceived as passive bystanders, but rather as active participants in various stages of the metastatic cascade. Pericytes-targeted therapy may provide novel insights for preventing and treating advanced-stage tumor.

To investigate the MR imaging characteristics of intracranial synovial sarcoma by reviewing this case and literature, aiming to improve preoperative diagnostic accuracy for radiologists and neurosurgeons and guide appropriate treatment planning.

The clinical and MR images of 1 case with SS in the brain by pathology were retrospectively analyzed, and the causes of misdiagnosis were analyzed Combined with relevant literature.

MR showed a solid cystic mass in the right frontal lobe, isointense on T1WI, heterogeneous signal on T2WI, Elevated signal on DWI, obvious uneven enhancement on T1WI, and "triple signal sign" and "cobblestone sign" appearance.

SS in the brain is very rare. MR has certain imaging features, perfect MR examination is helpful for differential diagnosis.

Osteosarcoma, an aggressive bone malignancy predominantly affecting children and adolescents, is characterized by a poor prognosis and high mortality rates. The development of reliable prognostic tools is critical for advancing personalized treatment strategies. However, identifying robust gene signatures to predict osteosarcoma outcomes remains a significant challenge. In this study, we analyzed gene expression data from 138 osteosarcoma samples across two multicenter cohorts and identified 14 consensus prognosis-associated genes via univariate Cox regression analysis. Using 66 combinations of 10 machine learning (ML) algorithms, we developed a machine learning-derived prognostic signature (MLDPS) optimized by the average C-index across TARGET, GSE21257, and merged cohorts. The MLDPS effectively stratified osteosarcoma patients into high- and low-risk score groups, achieving strong predictive performance for 1-, 3-, and 5-year overall survival (AUC range: 0.852 - 0.963). The MLDPS, comprising seven genes (CTNNBIP1, CORT, DLX2, TERT, BBS4, SLC7A1, NKX2-3), exhibited superior predictive accuracy compared to 10 established gene signatures. The findings of the MLDPS carry significant clinical implications for osteosarcoma treatment. Patients with a high-risk score demonstrated worse prognosis, increased metastasis risk, reduced immune infiltrations, and greater sensitivity to immunotherapy. Conversely, low-risk patients exhibited prolonged survival and distinct drug sensitivities. These findings underscore the potential of MLDPS to guide risk stratification, inform personalized therapeutic strategies, and improve clinical management in osteosarcoma.

Primary intracranial synovial sarcomas (PISSs) are extremely rare, with only 30 reported cases in the literature. The aim of this study is to outline the clinical characteristics of PISSs, examine prognostic risk factors, and attempt to develop an optimal treatment strategy based on the available data.

We included a total of 33 PISS cases, comprising 3 patients from our institution and 30 patients documented in the literature. We collated clinical data from these cases and conducted an analysis of prognostic risk factors using Cox proportional hazards models and Kaplan-Meier methods.

The cohort consisted of 21 males and 12 females, with an average age of 30.0 ± 18.5 years (ranging from 1 to 81 years). Among these cases, gross total resection (GTR) was performed in 21 (63.6 %) cases, non-GTR in 11 (33.3 %), and biopsy in 1 (3.0 %) case. Additionally, 25 patients (78.1 %) received RT (Radiotherapy), and 6 patients (18.8 %) underwent CT (Chemotherapy). Over a mean follow-up period of 11.5 ± 14.1 months (ranging from 2 to 84 months), tumor recurrence was observed in 27 patients (90 %), and 21 patients (70 %) died, with an average follow-up duration of 18.9 ± 21.6 months (ranging from 2 to 105 months). Multivariate Cox regression analysis revealed that non-GTR and no RT was independent adverse factors for both PFS (Progression-Free Survival) and OS (Overall Survival). Kaplan-Meier analysis revealed that non-GTR (p = 0.0001) and the absence of radiotherapy (p < 0.0001) were predictive of shorter OS.

In our study, we observed that PISSs predominantly affect young males, and the prognosis of this disease is relatively poor. Our statistical analysis revealed that GTR and postoperative radiotherapy are beneficial for both PFS and OS. Therefore, we recommend GTR combined with postoperative radiotherapy as the standard treatment approach.

The overexpression of pyruvate dehydrogenase kinase 1 (PDK1) has been observed in a number of different cancers, making it a potential target for the treatment of cancer. In this study, we used bioinformatics methods to analyse the immunophenotype of osteosarcoma (OS) and identified PDK1 as a critical factor in the different immune states of the disease. A pan-cancer analysis revealed a robust correlation between PDK1 and the tumour microenvironment. Moreover, our findings corroborate the overexpression of PDK1 in OS, whereby it facilitates tumour development via the NF-κB pathway. From a mechanistic perspective, PDK1 has the capacity to bind and phosphorylate USP5. The phosphorylation of USP5 by PDK1 activates its deubiquitinating activity, leading to the stabilisation of IKKγ protein and subsequent activation of the NF-κB signalling pathway, which ultimately promotes the growth of OS cells. Molecular simulation docking, pull-down assays, and SIP experiments were employed to further identify arctigenin (ATG) as a small molecule inhibitor of PDK1. The findings demonstrated that ATG effectively inhibited the growth of OS cells and tumour xenograft models. Collectively, these results highlight that PDK1 influences NF-κB in OS through the PDK1-USP5-IKKγ axis. Furthermore, the identification of ATG as an effective inhibitor of PDK1 suggests that ATG may serve as a promising lead compound for the treatment of OS.

This case report concerns a 16-year-old boy who developed pain in his right thigh after a soccer game. Imaging studies revealed a pathologic transtrochanteric fracture of the right femur, accompanied by a large expansive intramuscular lesion centered in the deep planes of the adductor musculature. Main imaging findings included intense enhancement and vascularization of the lesion, along with peripheral and central flow voids, the latter described as characteristic of this subtype of soft tissue sarcoma. Alveolar soft part sarcoma is a rare and distinctive sarcoma with an indolent clinical course that typically occurs in young patients and predominantly affects the deep tissues of the lower limbs. · Soft tissue sarcomas are a rare group of malignancies, often found in the extremities. Suspicious features include larger size, deeper location, heterogeneous enhancement, and progressive growth.. · Alveolar soft part sarcoma (ASPS), a rare subtype primarily seen in children, is characterized by high T1 signal intensity, intense contrast enhancement, and more than five central and peripheral flow voids that are highly indicative of this condition.. · Magnetic resonance imaging (MRI) is the preferred modality for evaluating these lesions. Advanced MRI techniques, such as diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC), enhance diagnostic confidence, particularly in postoperative evaluations..

A 55-year-old man with tuberous sclerosis complex (TSC) was diagnosed with left renal angiomyolipoma (AML), a group of perivascular epithelioid cell tumors called PEComas. He had received the mTOR inhibitor everolimus, which resulted in a complete response. However, a left renal mass relapsed in two years, followed by the occurrence of a hepatic mass five months later. Renal biopsy yielded no diagnosis because of massive necrosis in the tumor cells of the left kidney; however, pathological evaluation of the hepatic mass revealed a PEComa with pleomorphic cells. Even with continuous everolimus therapy, hepatic PEComa progressed aggressively and occupied the entire liver within a year from the first detection. An autopsy revealed pleomorphic cells with nuclear atypia spreading in the liver, kidney, and lung, which were not present in the renal AML sample prior to the initiation of everolimus therapy. This finding raises the possibility of a malignant transformation of the PEComa under the mTOR inhibitor therapy. While PEComas often present with benign characteristics, there are rare instances where the tumor exhibits malignant behavior. This highlights the importance of careful monitoring and long-term follow-up to ensure early detection and effective management of potential malignancies.

Hybrid peripheral nerve sheath tumor is a rare tumor subtype that infrequently occurs within the orbit. A 50-year-old male presented with a 6-year history of worsening left-sided proptosis and hypoglobus. Magnetic resonance imaging of the orbits revealed a left superior extraconal, muti-lobulated orbital lesion with extension into the left orbital apex originating from the left frontal nerve. The patient underwent surgical resection of the mass via a left orbito-cranial approach. Histopathologic examination was positive for orbital hybrid neurofibroma-schwannoma. Postoperatively, the patient had improvement in proptosis, resolution of symptoms, and improved cosmesis. This case represents the eleventh reported occurrence of orbital hybrid neurofibroma-schwannoma.

Retroperitoneal liposarcoma, especially dedifferentiated liposarcoma (DDL), is a rare tumor type primarily affecting middle-aged and older adults in the retroperitoneum or proximal extremities. This case report highlights an exceptionally large retroperitoneal DDL that had enveloped the entire right kidney and had adhered to nearby tissues. Diagnosing retroperitoneal liposarcoma is challenging due to its asymptomatic nature until it reaches a substantial size. Imaging, particularly contrast-enhanced computed tomography (CECT), play a vital role in diagnosis, staging, and preoperative planning. Surgical resection, with the goal of R0 resection, remains the cornerstone of treatment, albeit this can be challenging due to tumor location. First-line treatment for advanced DDL involves anthracycline-based therapy. Eribulin and pazopanib show promise in second-line treatment. Ongoing clinical trials suggest a shift towards multimodal therapy. This case report reports the largest retroperitoneal liposarcoma and underscores the complexity of managing retroperitoneal DDL.

Selinexor is a new compound studied for the treatment of liposarcoma, particularly dedifferentiated liposarcoma (DDLPS), where treatment options remain limited. As a first-in-class oral exportin-1 (XPO1) inhibitor, selinexor has shown anti-tumour activity in preclinical models, particularly in MDM2- and CDK4-amplified DDLPS, where it induces apoptosis, inhibits tumour growth and promotes nuclear retention of p53. Preclinical studies have also suggested potential synergy with doxorubicin and eribulin, although these findings have yet to be validated in randomised clinical trials. The phase II/III SEAL trial (NCT02606461) evaluated selinexor versus placebo in patients with advanced, previously treated DDLPS. While the study demonstrated a statistically significant, albeit modest, improvement in median progression-free survival (PFS) from 2.1 to 2.8 months, no overall survival benefit was observed. In addition, selinexor was associated with significant toxicity, including fatigue, nausea and weight loss. Similarly, a phase Ib/II study (NCT03042819) evaluating selinexor in combination with doxorubicin reported a 21% response rate and a median PFS of 5.5 months, although this regimen was also associated with high rates of neutropenia and fatigue. Despite these results, selinexor is not currently approved for the treatment of liposarcoma and its clinical utility remains under investigation. Ongoing studies, such as the SeliSarc trial (NCT04595994) evaluating selinexor in combination with gemcitabine and the NRSTS2021 trial (NCT06239272) evaluating selinexor in paediatric soft tissue sarcoma, aim to further define its role. The results of these studies will be critical in determining whether selinexor can be incorporated into standard sarcoma treatment.

Soft tissue sarcomas (STS) of the hand are extremely uncommon, with synovial sarcomas being even rarer. Despite their small size at presentation, hand sarcomas can indeed be aggressive and may result in significant morbidity and mortality if not effectively managed. A considerable proportion of these tumors are treated by unplanned excision before referral to a specialist oncological center. Additionally, hand sarcomas can mimic benign lesions, leading to misinterpretation and delayed diagnosis. To address these challenges, it is essential to thoroughly investigate all atypical soft tissue masses arising in the hand. Surgery is indeed considered the primary treatment for STS of the hand. However, achieving wide surgical margins can be particularly challenging in this area due to the intricate anatomy and proximity of tumors to vital structures within the hand. Adjuvant radiotherapy plays a crucial role in achieving local tumor control by targeting microscopic tumor cells near the surgical bed. This approach allows for a planned close margin excision along critical structures, which is essential for reducing the risk of tumor recurrence while preserving hand function. The role of adjuvant chemotherapy for synovial sarcoma of the hand is controversial and still a matter of intense debate. Distant metastasis and local recurrence are common in synovial sarcoma cases. They mostly metastasize to the lungs, followed by lymph nodes, bones, and the liver. Multidisciplinary discussions involving surgeons, medical oncologists, radiation oncologists, and other specialists are crucial in making informed decisions about the most appropriate treatment approach for each individual patient with STS of the hand. This collaborative approach ensures that the chosen treatment plan optimizes both oncological outcomes and the patient's overall quality of life.

Skin cancer is one of the most prevalent cancers in the world, and its incidence and mortality rates are increasing continuously, mostly in regions with white-skinned inhabitants. The types of skin cancer vary in their origin and clinical appearances and also differ in their extensiveness. The continents of the world have different scenarios of skin cancer prevalence. This review aims to explore the different types of skin cancer, their clinical features, and their worldwide prevalence based on the literature. Literature from different electronic databases, including Google Scholar, ResearchGate, PubMed, Scopus, Web of Science, Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Elsevier, and Springer, were collected through a literature search using specific keywords such as "skin cancer", "skin cancer types", "melanoma", "non-melanoma", "skin cancer continental prevalence" or similar keywords. The search included English publications from 2000 to 2024. Melanoma skin cancer (MSC) ranks 17th in global prevalence, with the highest incidence and deaths occurring in Europe, However, Australia and New Zealand record the highest incidence and mortality rates. Asia has a lower incidence rate of melanoma, but a higher mortality rate. Superficial spreading melanoma (SSM) is the most common type of MSC. Non-melanoma skin cancers (NMSCs) have the highest incidence in North America, with the highest number of deaths occurring in Asia, Australia and New Zealand have the highest incidence rates for basal cell carcinoma (BCC). BCC is the most commonly diagnosed skin cancer worldwide and the most prevalent form of NMSCs; however, squamous cell carcinoma is the most aggressive form of NMSCs, causing more deaths. NMSCs are the most prevalent cancers worldwide, causing most skin cancer-related deaths. The prevalence of skin cancer rising globally, with several continents experiencing higher incidence and mortality rates. The types and subtypes of skin cancer are becoming more common among clinically diagnosed cancers. This review comprehensively describes skin cancer types and their prevalence worldwide. However, the actual prevalence of skin cancer in these countries should be investigated. Further research on the prevalence of skin cancer across different continents is required to develop more effective cancer management strategies and control the spread of the disease.

Clear Cell Sarcoma (CCS) of soft tissue is a rare and highly malignant neoplasm primarily affecting young adults, often presenting in the deep soft tissues of the extremities. Despite morphological and immunophenotypic similarities to melanoma, CCS arises from connective tissues and is characterized by a distinct genetic hallmark: the EWSR1-ATF1 fusion resulting from t(12;22)(q13;q12) translocation. This genetic signature is absent in melanoma, making molecular diagnosis essential for accurate differentiation. Additionally, recent evidence highlights the utility of PRAME as an immunohistochemical marker to distinguish CCS from melanoma and other neoplasms. Clinically, CCS commonly involves tendons and aponeuroses, with metastatic potential leading to poor prognoses despite optimal local disease management. Histologically, CCS features lobular growth, spindle-to-epithelioid cells with clear cytoplasm, and low mitotic activity, often necessitating a multimodal diagnostic approach incorporating histopathology, immunohistochemistry, and molecular testing. Therapeutically, wide surgical excision remains the cornerstone for localized disease, with sentinel lymph node biopsy aiding in staging. Adjuvant radiotherapy is considered in select cases, while chemotherapy has limited efficacy in metastatic settings. Emerging treatments, including targeted therapies focusing on EWSR1-ATF1-driven pathways and immune checkpoint inhibitors, offer hope for improved outcomes. This review synthesizes current knowledge on CCS, emphasizing diagnostic challenges, the role of PRAME, and advancements in therapeutic strategies to enhance patient care.

Differentiating atypical lipomatous tumors (ALTs) from lipomas using imaging techniques is a challenge, and the biopsy with immunohistochemical determination of murine double minute 2 (MDM2) oncogene is the gold standard. We are looking for a management algorithm with the visual analysis of magnetic resonance images in these two fatty soft tissue tumors that allow us to avoid some biopsies. Two radiologists, blinded to the final diagnosis, independently assessed various features on conventional magnetic resonance imaging (MRI), in 79 patients with pathologically confirmed fatty tumors as either lipoma (MDM2 negative) or ALT (MDM2 positive). Results: The interobserver agreement for the most MRI features was moderate and the musculoskeletal radiologist accuracy for final diagnosis was 90% sensitivity and 66% specificity. Tumors with homogeneous fat signals and a maximum size < 8 cm were always lipomas (p < 0.001), and the tumors with septa thickness ≥ 2 mm, or more than one non-fat nodule, and a maximum size ≥ 12.8 cm were typically ALTs. While those tumors with septa < 2 mm or one non-fat nodule, independently of maximum size, the diagnosis of lipoma versus ALT is uncertain and a biopsy is required.

Inflammatory myofibroblastic tumors (IMTs) are uncommon mesenchymal neoplasms with malignant potential, primarily affecting children and adolescents. It usually manifests in the abdominal and pelvic regions; however, small intestinal IMT is particularly rare. This report presents the case of a 7-year-old girl who presented with a small intestinal IMT. The patient was admitted with a one-day history of abdominal pain and vomiting. Ultrasonography revealed a solid hypoechoic mass in the lower abdomen. Based on contrast-enhanced ultrasound (CEUS) findings, a preliminary diagnosis of small intestinal IMT was proposed, which was subsequently confirmed by postoperative histopathology. This case underscores the sonographic and CEUS features of small intestinal IMT in children, emphasizing that the combination of ultrasound and CEUS can improve diagnostic accuracy and preoperative evaluation in pediatric patients.

Hemangiopericytomas, or solitary fibrous tumors (SFT), are neoplasms of mesenchymal origin that are quite rare in oncological practice. These tumors often grow to large sizes before the onset of clinical symptoms, and in imaging studies, they closely resemble meningiomas, making diagnosis challenging. When treating intracranial hemangiopericytoma, it is necessary to ensure the most radical removal followed by radiation therapy. We present a rare case of transnasal transclival subtotal removal of a giant hemangiopericytoma/SFT of the craniovertebral junction and the C1-C2 vertebral level, not previously described in the literature. Based on the results of the literature review, it was determined that an accurate diagnosis during the instrumental and morphological examination is crucial for the future outcome of a patient with intracranial hemangiopericytoma, as confirmed in the presented case.

Primary pulmonary synovial sarcoma (PPSS) is an extremely rare malignancy that presents diagnostic challenges due to its overlapping clinical features with other lung diseases. We present the case of a 53-year-old woman with a history of bronchial artery malformation and right lung organizing pneumonia, who experienced an eight-month history of intermittent cough and sputum. Despite multiple imaging studies and biopsies at different hospitals, a definitive diagnosis was not reached until a CT scan of the chest revealed an enlarged mass in the right lower lobe. The patient underwent video-assisted thoracoscopic surgery, where intraoperative findings and pathological examination confirmed a spindle cell tumor. Immunohistochemistry and next-generation sequencing then identified the presence of a gene fusion, confirming the diagnosis of PPSS. This case illustrates how PPSS can mimic other malignancies or infections and underscores the importance of advanced diagnostic techniques, such as immunohistochemistry and molecular testing, in facilitating an accurate diagnosis.

Inflammatory myofibroblastic tumor (IMT) is a rare neoplasm with intermediate biological potential. The stomach is an uncommon site for IMTs, and gastric IMTs are typically confined to the submucosal layer. This report presents a rare case of a 29-year-old woman with a gastric IMT located in the gastric fundus, exhibiting local invasion into the esophagus and spleen.

Inflammatory myofibroblastic tumors (IMTs), rare soft tissue neoplasms, are characterized by a blend of myofibroblastic proliferation and inflammatory features. While generally characterized by slow growth, IMTs can exhibit locally aggressive behavior, and in rare instances, metastasize to distant sites. This study elucidated the clinical characteristics, molecular profile, and tumor microenvironment of thoracic IMTs.

We retrospectively analyzed cases of IMTs diagnosed at the National Taiwan University Hospital between 2000 and 2020. ALK immunohistochemistry (IHC) was performed, followed by fluorescence in situ hybridization (FISH) for confirmation. Next-generation sequencing (NGS) was employed to detect unknown oncogenic drivers, and multiplex immunofluorescence staining was used to characterize the tumor microenvironment. Demographic, clinicopathological characteristics, and treatment outcomes were systematically recorded and analyzed.

We identified a total of 8 patients with thoracic IMTs, whose median age of the participants was 33.8 years (range: 18.6-58.7). The disease status of all tumors were early-stage, and all patients underwent surgical excision. ALK fusions were detected in 6 tumors (all spindle-cell patterns), with fusion partners including 3 TPM3, 2 DCTN1, and one EML4. In the remaining 2 tumors without ALK fusion, NGS showed NTRK3 alteration with high gene expressions. Multiplex IHC of three cases identified a pronounced infiltration of macrophages cells within the tumor microenvironment.

Patients with thoracic IMT patients are typically young with early-stage disease. ALK fusion were the most common genetic alteration, particularly in spindle-cell patterns. Characterization of the tumor microenvironment indicates the potential of immune profiling in the tumor biology and targeted immunotherapy approaches.

The cell line Sarcoma 180, which is also called S-180 (or S180), was established about 110 years ago from a murine axillary sarcoma. It has been applied in >5000 studies but was never genetically characterized in detail; this study fills that gap. The cell line Sarcoma 180 was analyzed for its chromosomal constitution using molecular cytogenetic approaches, specifically murine multicolor banding (mcb). Additionally, array comparative genomic hybridization was performed to characterize copy number alterations. Sarcoma 180 has a near tetraploid karyotype without Y-chromosome material and only two X-chromosomes. The complex karyotype includes dicentrics and simple and complex rearrangements and shows a relatively high chromosomal instability. An in silico translation of the obtained results to the human genome indicated that Sarcoma 180 is suitable as a model for advanced human mesenchymal chondrosarcoma.

Desmoid tumors are a rare entity, especially in the pediatric population. There are no reports of such a tumor in newborns. They are associated with high rates of morbidity and mortality, even though they are benign soft tissue tumors. This is due to them exhibiting locally aggressive growth with the compression or invasion of adjacent structures. Abdominal localization is most commonly reported, although there are reports of mediastinal desmoid tumors. We present the case of a 6-day male patient with a mediastinal desmoid tumor that led to severe aortic coarctation with hemodynamic instability. The tumor also compressed the left pulmonary artery and obstructed the left main bronchus. The initial management consisted of successful emergency surgery with partial resection of the tumor mass and coarctation repair. In the postoperative setting, the patient evolved with severe respiratory dysfunction which was managed with tracheostomy, allowing weaning the child from the mechanical ventilation one month after surgery, along with chemotherapy. We also review the literature, focusing on the management of desmoid tumors.

The aim of this study is to elucidate the disparities in survival and risk factors among different subtypes of liposarcoma, through analysis of epidemiological and prognostic data. The study cohort consisted of 12,822 patients diagnosed with liposarcoma in the United States between 2000 and 2021, whose data were retrieved from the Surveillance, Epidemiology, and End Results (SEER) program. The prognosis for different subtypes of liposarcoma and the associated factors such as age, tumor stage, intervention, gender, tumor grade, location, size, chemotherapy and radiotherapy, were retrieved from the database. Well-differentiated liposarcoma demonstrated the most favorable prognosis, with 5-year and 10-year survival rates of 82% and 68%, respectively, followed by myxoid liposarcoma, pleomorphic liposarcoma and dedifferentiated liposarcoma, which exhibited the poorest prognosis. Advanced age, higher tumor stage, and the absence of surgical intervention were associated with inferior survival outcomes across all subtypes. Male gender, higher pathological grade, and primary tumor sites outside the extremities were identified as risk factors for the prognosis of subtypes other than pleomorphic liposarcoma. Larger tumor size was an indicator of a worse prognosis in subtypes other than well-differentiated liposarcoma. Chemotherapy was a risk factor for the prognosis of well-differentiated and myxoid liposarcomas but had no significant correlation with the prognosis of pleomorphic and dedifferentiated liposarcomas. Radiotherapy served as a protective factor for the prognosis of subtypes other than well-differentiated liposarcoma. Survival and prognostic factors vary among the major subtypes of liposarcoma, necessitating individualized analysis for each subtype. Poorer outcomes can be anticipated in the dedifferentiated and pleomorphic subtypes, while well-differentiated and myxoid liposarcomas exhibit relatively favorable prognoses.

Undifferentiated pleomorphic sarcomas (UPSs) demonstrate therapy-induced hemosiderin deposition, granulation tissue formation, fibrosis, and calcification. We aimed to determine the treatment-assessment value of morphologic tumoral hemorrhage patterns and first- and high-order radiomic features extracted from contrast-enhanced susceptibility-weighted imaging (CE-SWI).

This retrospective institutional review board-authorized study included 33 patients with extremity UPS with magnetic resonance imaging and resection performed from February 2021 to May 2023. Volumetric tumor segmentation was obtained at baseline, postsystemic chemotherapy (PC), and postradiation therapy (PRT). The pathology-assessed treatment effect (PATE) in surgical specimens separated patients into responders (R; ≥90%, n = 16), partial responders (PR; 89%-31%, n = 10), and nonresponders (NR; ≤30%, n = 7). RECIST, WHO, and volume were assessed for all time points. CE-SWI T2* morphologic patterns and 107 radiomic features were analyzed.

A Complete-Ring (CR) pattern was observed in PRT in 71.4% of R (P = 7.71 × 10-6), an Incomplete-Ring pattern in 33.3% of PR (P = .2751), and a Globular pattern in 50% of NR (P = .1562). The first-order radiomic analysis from the CE-SWI intensity histogram outlined the values of the 10th and 90th percentiles and their skewness. R showed a 280% increase in 10th percentile voxels (P = .061) and a 241% increase in skewness (P = .0449) at PC. PR/NR showed a 690% increase in the 90th percentile voxels (P = .03) at PC. Multiple high-order radiomic texture features observed at PRT discriminated better R versus PR/NR than the first-order features.

CE-SWI morphologic patterns strongly correlate with PATE. The CR morphology pattern was the most frequent in R and had the highest statistical association predicting response at PRT, easily recognized by a radiologist not requiring postprocessing software. It can potentially outperform size-based metrics, such as RECIST. The first- and high-order radiomic analysis found several features separating R versus PR/NR.

Inflammatory myofibroblastic tumor (IMT) is a rare intermediate-grade neoplasm. It presents a great challenge in diagnosis and treatment. This study aims to identify the clinicopathological characteristics of IMT.

A retrospective study was conducted, enrolling patients with IMT at Peking Union Medical College Hospital from January 2013 to October 2023. Clinical information, treatments, and efficacy were analyzed.

A total of 72 patients were enrolled, including 38 men and 34 women, with a median age of 46.5 years. The most common primary site included the lung (n = 15, 20.8%), intestinal tract (n = 8, 11.1%), abdominal cavity (n = 7, 9.7%), and nasal sinus (n = 5, 6.9%). Thirty patients harbored anaplastic lymphoma kinase (ALK) fusion genes; Sixty-five (90.3%) patients underwent surgical resection, and 11 of them had postoperative recurrence. Thirty patients received systemic therapy, including nonsteroidal anti-inflammatory drugs (n = 1), steroids (n = 5), chemotherapy (n = 7), targeted therapy (n = 2), and immune checkpoint inhibitor (n = 1).

The most common site of IMT is the lung. Surgery is the main treatment for IMT, and postoperative adjuvant therapy for ALK-positive patients needs to be focused. The molecular testing is essential for all patients diagnosed with IMTs. Systemic treatment needs further research.

Myxofibrosarcoma is one of the most prevalent histological types of primary malignant soft tissue tumors of the extremity. Radiation therapy is frequently employed as a post-operative treatment. In this case report, we present a 78-year-old male with a large tumor on his forearm. He refused surgical treatment. Over a period of seven years, recurrence and bleeding were repeatedly observed. Kochi oxydol radiation therapy for unresectable carcinomas (KORTUC) is a treatment modality that uses a hydrogen peroxide solution that adheres to the tumor surface (KORUTC I), while the solution is also injected into the tumor (KORTUC II). We treated the tumor with KORTUC I and II. A good response was observed. This case report highlights the effectiveness of KORTUC I and II. Reports on KORTUC for sarcomas are limited, underscoring the necessity for future examination of cases not indicated for surgical intervention.

Chordoma is a rare and aggressive bone tumor with high-recurrence and lack of effective treatment methods. Tumor associated macrophages (TAMs) are abundant in tumor microenvironment (TME) and polarize toward M2 in chordoma. It has been observed that the high proportion of M2 cells is associated with chordoma rapid progression. However, the mechanism of TAMs polarization and promotion to tumor progression in chordoma is still unclear. The is an urgent need for further research.

Flow cytometry and immunohistochemical staining was used to detect the degree of macrophages infiltration in chordoma. A co-culture model of chordoma cells and macrophages was established in vitro to investigate the effects of their interaction on cell function, cytokine secretion, and RNA transcriptome expression.

In this study, we found M2 macrophage was predominantly abundant immune cell population in chordoma, and its proportion was associated with the degree of bone destruction. We demonstrated that interleukin 6 (IL-6) derived from chordoma cells could induce TAMs polarization by activating STAT3 phosphorylation, and TAMs could enhance chordoma cells migration and invasion through TNFα/NF-κB pathway. The interaction of chordoma cells and TAMs could promote the bone destruction-related factor Cathepsin B (CTSB) and inhibitory immune checkpoints expression. We also confirmed blocking IL-6/STAT3 pathway could significantly attenuate the M2 polarization of TAMs and decrease the secretion of TNFα.

This study illustrates the dynamics between chordoma cells and TAMs in promoting chordoma invasion and suggests that IL-6/STAT3 pathway is a potential therapeutic target to reduce TAM-induced chordoma invasion.

Towards the beginning of the twentieth century, inflammatory myofibroblastic tumors were described as neoplasms characterized by myofibroblastic spindle cells with an infiltrate of inflammatory cells. These rare tumors occur mainly in children and young adults with a preferential pulmonary and abdominal location. They have intermediate biological potency with a tendency to local recurrence and rarely metastasize. We describe the case of an adolescent who presented with an inflammatory myofibroblastic tumor of the thigh, a very rare entity that has only been reported in the literature as case reports, and its clinical, radiological, echographic and MRI appearance. The patient underwent complete surgical resection of the mass with healthy margins and did not receive any additional treatment. No sign of recurrence was detected after 6 months of follow-up.

Pazopanib is part of the therapeutic armamentarium for the treatment of patients with advanced non-adipocytic soft tissue sarcomas (STS) who have received prior chemotherapy, but its optimal use in STS histologies is still left to be further defined.

Data on STS patients treated with pazopanib in Italy have been prospectively collected from July 2013 to December 2019 through a drug monitoring registry managed by the Italian Medicines Agency (AIFA). This nationwide observational cohort study included patients with advanced STS who received pazopanib. Clinicians were mandatorily requested to fill in the AIFA monitoring registry in order to prescribe pazopanib. Patients were recorded on the basis of their clinical characteristics, histological subtype captured at the time of treatment start, and clinical outcome. Primary outcome was time to treatment discontinuation (TTD). Secondary outcomes recorded were frequency of dose reduction and time to first dose reduction.

We analyzed data from 1964 sarcoma patients. The most represented histological subtypes were leiomyosarcoma (44.7%), undifferentiated sarcomas/not otherwise specified (11.5%), and synovial sarcoma (8.1%). Overall, the median TTD was 106 days. The variables significantly associated to shorter TTD were Eastern Cooperative Oncology Group performance status (1-2 versus 0), the number of previous lines of treatment (2-4 versus 0-1) and prescribed dose (200 mg or 400 mg versus 800 mg, all once daily). Among the most represented (>20 patients) histological subtypes, we also observed longer TTD in patients with histological diagnosis of malignant solitary fibrous tumor if compared with undifferentiated sarcoma not otherwise specified.

In this nationwide observational real-world study, the outcomes are similar to those reported in the pivotal trial (PALETTE study). Our study includes a significant number of patients with rare/ultra-rare sarcoma subtypes and underlines possible differences in treatment duration among these histologies.

We aimed to explore the prognostic significance of collagen content in solitary fibrous tumors (SFTs) of the central nervous system (CNS) and preliminarily investigate its relationship with magnetic resonance imaging (MRI) features of SFTs.

Collagen content was identified using Masson's trichrome staining, and quantitatively assessed. Radiomic methods were applied to extract quantitative MRI features of SFTs, which were then analyzed in relation to collagen content.

The collagen content in CNS SFTs was categorized into high- and low-content groups, with a cutoff value of 6%. Survival analysis indicated a positive correlation between collagen content and overall survival (OS). In multivariate Cox regression analysis, incorporating factors such as mitosis, necrosis, Ki67, and collagen content and other indicators, collagen content emerged as an independent prognostic factor. Collagen content demonstrated a negative correlation with tumor histological phenotype, Ki67, WHO grade, mitosis, necrosis, and brain invasion. Additionally, the signal intensity of SFTs on T2-weighted imaging (T2WI) decreased with increasing collagen content. Radiomics analysis identified 1,702 features from each patient's region of interest, with 12 features showing significant differences between the high and low collagen content groups. Among the quantitative parameters and radiomic models, the combined T1- and T2WI models exhibited the highest diagnostic performance.

These findings suggest that collagen content is an independent prognostic risk factor for OS. Furthermore, combined radiomic models based on T1-and T2WI sequences may offer a more comprehensive, objective, and accurate assessment of collagen content in CNS SFTs.

Lipomas and atypical lipomatous tumors or well-differentiated liposarcomas (ALTs/WDLs), pose a diagnostic challenge due to their overlapping clinical and imaging features. Accurate differentiation is crucial as treatment strategies differ significantly between benign lipomas and malignant ALTs/WDLs. In recent years, medical imaging techniques have shown promise in distinguishing lipomas from ALTs/WDLs by providing enhanced visualization and assessment of various imaging parameters.

This systematic review aimed to investigate the use of magnetic resonance (MR) imaging and computed tomography (CT) scan to differentiate lipomas from ALTs/WDLs.

A systematic review was conducted by using MEDLINE, PubMed, PubMed Central, Cochrane Library, Google Scholar, and clinical trail.gov to identify imaging studies published between 2001 and 2022. Two independent reviewers reviewed 221 record to scrutinize the studies. The methodological quality of each included studies was assessed the using Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool.

Thirteen retrospective cohort studies included 1,390 of total patients. Among them, 11 studies used MR imaging, 2 studies used CT scan and MR imaging both to differentiate lipoma from ALTs/WDLs. The significant diagnostic variables identified in the included studies were age, size, texture, mean intensity, contrast enhancement, location, septation, and nodularity. The overall, sensitivity, specificity, and accuracy of the included studies for diagnosis of lesions range from 66% to 100%, 37% to 100%, and 76% to 95%, respectively. The positive and negative predictive values range from 46.9% to 90% and 86% to 100%, respectively.

The most frequent diagnostic features of ALTs/ WDLs include tumors ⩾110 mm in size, often in patients over 60, predominantly in the lower extremities, with an irregular shape, incomplete fat suppression, contrast enhancement, nodularity, septation >2 mm, and predictive markers such as lactate dehydrogenase >220 and a short tau inversion recovery-signal intensity ratio >1.18.

Patients with PAX3/7-FOXO1 fusion-negative rhabdomyosarcomas (fnRMS) harbouring the rare L122R MYOD1 mutation have significantly poorer prognosis than other fnRMS. We undertook a detailed clinicopathological evaluation of a cohort of patients with MYOD1 mutated fnRMS in order to improve risk stratification and treatment options.

Histological, mutational and clinical data from a cohort of patients with MYOD1 mutant RMS treated in Europe were analysed.

Thirty-two cases with mutant MYOD1 RMS were identified from patients enrolled in sequential European rhabdomyosarcoma clinical trials from 1992 to 2022 (n = 22) and non-trial cohorts (n = 10). Thirty cases had the recurrent L122R missense mutation, one case harboured a K124E mutation and one case had a truncating mutation (S63X). Increased MyoD1 and reduced MYF4 immunostaining were consistent features of MYOD1L122R-mutated RMS. Applying the risk stratification of the European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS2005 trial, among 20 localised RMS cases that could be assigned a risk category, one was Very High Risk, 13 were High Risk and six were Standard Risk. Eight patients had distant metastases at diagnosis. Of the 25 patients with adequate clinical follow-up data, 15/25 (60%) patients had an event at a median time of 9 months (12/15 included failure of local control) and 13/25 (52%) died of disease.

This MYOD1 mutant cohort demonstrates increased MYOD and reduced MYF4 immunostaining, high risk of local failure and poor survival in agreement with other studies. Increased treatment intensity and improved local control should be considered for these patients.

Inflammatory myofibroblastic tumors (IMTs) represent rare neoplasms, particularly infrequent in the pediatric skull. We present a novel case of a newborn male with a 5 cm right temporal mass and discuss current diagnostic and treatment options for IMTs. A multidisciplinary effort to surgically remove the lesion was successful, and the patient's skull defect healed without neurological deficits. The etiology of IMTs remains elusive, with proposed associations with chromosomal mutations in the anaplastic lymphoma kinase (ALK) gene. Surgical excision remains the primary treatment for IMTs. Promising pharmacological treatments, like Crizotinib, warrant further research into understanding potential alternatives in IMT management.

Inflammatory myofibroblastic tumor IMT1 is a rare neoplasm with diverse clinical presentations, needing histological confirmation for diagnosis. The tumor often mimics malignant conditions, making accurate diagnosis challenging.

We report a case of a 29-year-old male presenting with long standing recurrent abdominal pain, with more recent increasing frequency and associated weight loss. Imaging revealed a heterogenous soft tissue lesions causing mechanical small bowel obstruction, prompting surgical intervention. Histology analysis confirmed the diagnosis of IMT.

This case highlights the importance of considering IMT in the differential diagnosis of neoplastic mechanical small bowel obstruction, particularly in patients presenting with atypical symptoms and image findings. Despite its rarity, IMT should be considered, as it can present similarly to more common malignancies. Further research is warranted to unravel the pathogenesis and refine management strategies for this intriguing neoplasm.

IMT is a rare and intriguing neoplasm that presents significant diagnostic challenge. This case emphasize the need for thorough histological evaluation to confirm rhe diagnosis and guide appropriate management strategies.

The spleen is occasionally referred to as the 'forgotten organ' because splenic lesions are less common and encountered rarely compared to pathologies of other abdominal solid organs. Therefore, although well-demonstrated using various abdominal imaging modalities, radiologists tend to be less familiar with splenic diseases, making interpretation challenging. This study aimed to review common and uncommon splenic diseases and illustrate the multimodal imaging (including ultrasonography, CT, MRI, and PET/CT) features of these lesions in correlation with their histopathology. Recognizing the radiological findings of various splenic lesions helps narrow down the differential diagnosis and guide appropriate clinical decision-making for radiologists.

Synovial sarcoma is a rare type of soft tissue sarcoma that primarily affects adolescents and young adults, featured by aggressive behavior and a high potential for metastasis. Genetically, synovial sarcoma is defined by the fusion oncogene SS18-SSX arising from the translocation of t(X;18)(p11;q11). SS18-SSX fusion gene is the major driver of the oncogenic event in synovial sarcoma. SS18-SSX fusion protein, while not containing any DNA-binding motifs, binds to the SWI/SNF (BAF) complex, a major epigenetic regulator, leading to the disruption of gene expression which results in tumor initiation and progression. Emerging studies on the molecular mechanisms of SS18-SSX associated signaling pathway hold promise for developments in diagnosis and treatments. Advanced diagnostic methods facilitate early and precise detection of the tumor, enabling disease monitoring and prognostic improvements. Treatment of synovial sarcoma typically comprises local surgery, radiotherapy and chemotherapy, while novel managements such as immunotherapy, targeted therapies and epigenetic modifiers are explored. This review focuses on the recent studies of SS18-SSX fusion gene, epigenetic landscape, signaling pathways, diagnostic techniques, and relevant therapeutic advances, aiming to inhibit the oncogenic processes and improve outcomes for patients with synovial sarcoma.