RT Journal Article
T1 EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature
A1 Vega González, Jesús
A1 Cortés Toro, José Antonio
A1 Marquina Ospina, Gloria
A1 Torre Serrano, Montserrat de la
A1 Colino Gallardo, Ana María
A1 Bergillos Giménez, Reyes
A1 Hernández Martínez, Desiré
A1 García Egido, Alejandro
A1 Alarcón García, Lorenzo
A1 Plaza Hernández, José Carlos
A1 Ortega Medina, Luis
AB 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.
PB Wiley
SN 1045-2257
YR 2025
FD 2025-04-10
LK https://hdl.handle.net/20.500.14352/119542
UL https://hdl.handle.net/20.500.14352/119542
LA eng
NO Vega-Gonzalez, J., Toro, J. A. C., García, E. L., Ospina, G. M., Serrano, M. T., Gallardo, A. M. C., Giménez, R. B., Martínez, D. H., Egido, A. G., García, L. A., Nielsen, L., Plaza, J. C., & Medina, L. O. (2025). EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature. Genes, chromosomes & cancer, 64(4), e70048. https://doi.org/10.1002/gcc.70048
DS Docta Complutense
RD 18 dic 2025