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

Cancer Genet Cytogenet. 2005 Oct 1;162(1):50-6. doi: 10.1016/j.cancergencyto.2005.03.009.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Oncogene Proteins, Fusion
  • SYT-SSX fusion protein