Synovial sarcoma is a rare malignant mesenchymal tumour typically found in the extremities, but it can also develop in the gastrointestinal tract, with the upper rectum being the most common site. We describe a case of a man in his 60s diagnosed with monophasic synovial sarcoma in the lower rectum, presenting with severe, intractable anal pain.

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http://dx.doi.org/10.1136/bcr-2024-261817DOI Listing

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Synovial sarcoma is a rare malignant mesenchymal tumour typically found in the extremities, but it can also develop in the gastrointestinal tract, with the upper rectum being the most common site. We describe a case of a man in his 60s diagnosed with monophasic synovial sarcoma in the lower rectum, presenting with severe, intractable anal pain.

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Orthop Traumatol Surg Res

January 2025

Ankara University Medical Faculty, İbni Sina Hospital, Department of Orthopedics and Traumatology, Talatpasa Boulevard no:82, 06630 Ankara, Turkey.

Background: Synovial sarcoma (SS) is classified as an aggressive high-grade soft tissue sarcoma that predominantly affects the extremities. Despite its prevalence in the extremities (up to 80%), diagnostic and treatment challenges persist. This study aims to address these challenges by providing a comprehensive analysis of SS in extremities, focusing on diagnostic accuracy and treatment outcomes.

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There has been noteworthy progress in molecular characterisation and therapeutics in soft tissue sarcomas. Novel agents have gained regulatory approval by the FDA. Examples are the tyrosine kinase inhibitors avapritinib and ripretinib in gastrointestinal stromal tumours (GIST), the immune check point inhibitor atezolizumab in alveolar soft part tissue sarcoma, the γ-secretase inhibitor nirogacestat in desmoid tumours, the NTRK inhibitors larotrectinib and entrectinib in tumours with fusions, the mTOR inhibitor nab-sirolimus in PEComa, and the EZH-2 inhibitor tazemetostat in epithelioid sarcoma.

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Rationale: Synovial sarcoma (SS) is a rare and highly malignant soft tissue sarcoma. When SS occurs in atypical locations, it can present significant diagnostic challenges. We report a case of paraspinal SS initially misdiagnosed as spinal tuberculosis, highlighting the diagnostic difficulties and the importance of considering SS in the differential diagnosis.

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Synovial sarcoma is a rare malignant mesenchymal neoplasm primarily affecting adolescents and young adults, and it typically arises from deep soft tissues near large joints. Although commonly found in extremities, it can occur in various anatomic locations. We present a rare case of a 29-year-old man with primary pulmonary synovial sarcoma manifesting as a cystic mass masquerading as a lung hydatid cyst.

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