Desmoplastic small round cell tumor: using FISH as an ancillary technique to support cytologic diagnosis in an unusual case

Abstract

Desmoplastic small round cell tumor is a rare and aggressive neoplasm that predominantly affects young males. In almost all cases, a reciprocal translocation is present resulting in the fusion of the Ewing sarcoma gene with the Wilms' tumor gene. Here we describe an unusual case occurring in a 59-year-old male, in which fluorescence in situ hybridization (FISH) was used in conjunction with immunohistochemical studies to confirm the diagnosis. To our knowledge, this is the first reported case of using FISH as an ancillary technique to confirm the cytologic diagnosis of this tumor.