title: Epithelioid sarcoma with SYT-SSX1 fusion gene expression: molecular and cytogenetic analysis.
abstract: 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.
authors.affiliation: 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. cdetorres@hsjdbcn.org
authors.forename: Carmen
authors.initials: C
authors.lastname: de Torres
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Cardesa
authors.forename: Sandra
authors.initials: S
authors.lastname: Rodríguez-Perales
authors.forename: Juan C
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: Jaume
authors.initials: J
authors.lastname: Mora
mesh_terms: D000293:Adolescent; D001132:Arm; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012509:Sarcoma / Q000378:metabolism* / Q000473:pathology
chemical_list: D015514:Oncogene Proteins, Fusion; C116512:SYT-SSX fusion protein