%0 Journal Article
%A Vega González, Jesús
%A Cortés Toro, José Antonio
%A Marquina Ospina, Gloria
%A Torre Serrano, Montserrat de la
%A Colino Gallardo, Ana María
%A Bergillos Giménez, Reyes
%A Hernández Martínez, Desiré
%A García Egido, Alejandro
%A Alarcón García, Lorenzo
%A Plaza Hernández, José Carlos
%A Ortega Medina, Luis
%T EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature
%D 2025
%@ 1045-2257
%U https://hdl.handle.net/20.500.14352/119542
%X According to the 5th edition of the WHO Classification of Soft Tissue and Bone Tumors, the diagnosis of synovial sarcoma relies on morphology, immunohistochemistry, and the detection of a specific fusion involving the SS18 gene with a member of the SSX gene family. However, few cases of synovial sarcoma that do not harbor such molecular alterations have been recently reported. We present the case of a patient with a diffuse pleural mass and pleural effusion that showed in a core needle biopsy a spindle cell neoplasia morphologically suggestive of synovial sarcoma. An SS18 break-apart FISH was performed with a negative result. Afterwards, an EWSR1::SSX1 fusion was detected by next-generation sequencing. There is scarce literature on non-SS18 fusion-driven synovial sarcomas, and no study has evaluated whether these novel molecular alterations have a relevant clinical impact on patients beyond the diagnostic value.
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