A combined cytogenetic and molecular approach to diagnosis in a case of desmoplastic small round cell tumor with a complex translocation (11;22;21)

Desmoplastic small round cell tumor (DSRCT) has recently been described as a discrete tumor entity. it is distinguished from other small round cell tu mors by its prominent desmoplastic quality, its preponderance in adolescent males, its almost exclusive intraabdominal location, a multi-immunophenoty pic profile, and its aggressive nature. Diagnosis on histology alone is nor always unequivocal. A recurrent t(11;22)(p13;q12) translocation has recent ly been described in this tumor, and a chimeric RNA fusion product formed f rom the WT1 and EWS genes is detectable by reverse transcriptase-polymerase chain reaction (RT-PCR). We describe the use of a multi-faceted approach u sing conventional G-banding, fluorescence in situ hybridization (FISH) and RT-PCR to assist the diagnosis of a case of DSRCT with a complex varian t(1 1;22;21)(p13;q12;q22.1) translocation and demonstrate the value of a combin ed approach to genetic investigation of solid tumors. (C) Elsevier Science Inc., 1998.