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Synovial sarcoma is a rare type of soft tissue sarcoma that primarily affects adolescents and young adults, featured by aggressive behavior and a high potential for metastasis. Genetically, synovial sarcoma is defined by the fusion oncogene SS18-SSX arising from the translocation of t(X;18)(p11;q11). SS18-SSX fusion gene is the major driver of the oncogenic event in synovial sarcoma. SS18-SSX fusion protein, while not containing any DNA-binding motifs, binds to the SWI/SNF (BAF) complex, a major epigenetic regulator, leading to the disruption of gene expression which results in tumor initiation and progression. Emerging studies on the molecular mechanisms of SS18-SSX associated signaling pathway hold promise for developments in diagnosis and treatments. Advanced diagnostic methods facilitate early and precise detection of the tumor, enabling disease monitoring and prognostic improvements. Treatment of synovial sarcoma typically comprises local surgery, radiotherapy and chemotherapy, while novel managements such as immunotherapy, targeted therapies and epigenetic modifiers are explored. This review focuses on the recent studies of SS18-SSX fusion gene, epigenetic landscape, signaling pathways, diagnostic techniques, and relevant therapeutic advances, aiming to inhibit the oncogenic processes and improve outcomes for patients with synovial sarcoma.
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http://dx.doi.org/10.1016/j.bbcan.2024.189215 | DOI Listing |
Background: Sarcomas of the trunk and abdominal wall are rare and present unique challenges in both resection with free margins and reconstruction, particularly when the tissue loss is extensive. These tumors predominantly affect young, active individuals, posing a significant challenge for oncologists and plastic surgeons in preserving the patients' quality of life.
Case Presentation: We present the case of 23-year-old woman with no significant medical history.
Oncogene
August 2025
Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
The SS18::SSX oncogene is the driver of synovial sarcoma, an aggressive cancer presenting in young adults that has poor long-term outcomes. Over the past five years, significant progress has been made in understanding the molecular, genomic, and epigenetic mechanisms underlying synovial sarcoma. This review synthesizes recent advancements in synovial sarcoma, including diagnostic pathology, genomic profiling, SS18::SSX biology, epigenetic dysregulation, proteomics, targetable pathways and immunotherapy.
View Article and Find Full Text PDFJ Clin Pathol
August 2025
Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Aims: To investigate immunohistochemical expression of the E26 transformation-specific factors (ETS)-related gene () in a large number of soft tissue neoplasms using a tissue microarray technique.
Methods: 489 cases of soft tissue neoplasms, including benign and malignant entities, were collected from the files of the respective institutions and constructed into tissue microarrays. Tissue microarrays were stained for ERG immunohistochemistry using two antibodies, EP111 and EPR3864.
Ophthalmic Plast Reconstr Surg
August 2025
Department of Ophthalmology.
Purpose: To describe the clinical, histologic, and molecular features of a rare case of orbital synovial sarcoma and to provide a comprehensive literature review.
Methods: We present a case report and up-to-date literature review of orbital synovial sarcoma. Variables analyzed included patient demographics, clinical presentations, imaging findings, histopathologic features, molecular diagnostics, treatment, and outcomes.
Front Oncol
August 2025
Department of Pathology, Taihe Hospital, Hubei University of Medicine, Shiyan, China.
Spindle cell epithelioma of the vagina (SCEV) is a rare female genital tract neoplasm with a complex morphology and immunophenotype easily resulting in misdiagnosis. The tumor was primarily composed of spindle and epithelioid cells. In this case, there was no obvious epithelial component in the tumor parenchyma, and only epithelioid cells with rounded nuclei were observed, which were tightly mixed with the spindle cells.
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