Epithelioid sarcoma with SYT-SSX1 fusion gene expression: molecular and cytogenetic analysis.

Cancer Genet Cytogenet

Laboratori de biologia molecular dels tumors del desenvolupament, Hospital Sant Joan de Déu, Barcelona, Passeig Sant Joan de Déu núm 2, 08950 Esplugues del Llobregat, Barcelona, Spain.

Published: October 2005

Epithelioid sarcoma is a rare malignant soft tissue tumor of unknown histogenesis, characterized by the epithelioid morphology of tumor cells and co-expression of epithelial and mesenchymal lineage proteins. A common epithelial and mesenchymal immunophenotype is also found in another soft tissue tumor, the biphasic subtype of synovial sarcoma. Furthermore, the presence of a breakpoint at 18q11 in epithelioid sarcoma, similar to that found in synovial sarcoma, has been reported. These facts would support the hypothesis that both tumors may share a common histogenetic background. However, expression of the SYT-SSX fusion genes has been investigated in epithelioid sarcoma with negative results. We report, to our knowledge, the first epithelioid sarcoma in which the presence of SYT-SSX1 fusion gene has been detected by means of conventional RT-PCR analysis and sequencing, real-time RT-PCR and FISH. The SYT-SSX1 gene fusion was identified in a small proportion of tumoral cells. This finding supports a likely common histogenetic background for both epithelioid sarcoma and synovial sarcoma.

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http://dx.doi.org/10.1016/j.cancergencyto.2005.03.009DOI Listing

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