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: Carmen de Torres, Teresa M Cardesa, Sandra Rodríguez-Perales, Juan C Cigudosa, Jaume Mora
• Journal: Cancer genetics and cytogenetics (Cancer Genet Cytogenet) Vol. 162 Issue 1 Pg. 50-6 (Oct 01 2005) ISSN: 0165-4608 [Print] United States
• PMID: 16157200 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Oncogene Proteins, Fusion
• SYT-SSX fusion protein

Topics

• Adolescent
• Arm
• Gene Expression
• Humans
• In Situ Hybridization, Fluorescence
• Male
• Oncogene Proteins, Fusion (metabolism)
• Reverse Transcriptase Polymerase Chain Reaction
• Sarcoma (metabolism, pathology)