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 tumors by its prominent desmoplastic quality, its preponderance in adolescent males, its almost exclusive intraabdominal location, a multi-immunophenotypic profile, and its aggressive nature. Diagnosis on histology alone is not always unequivocal. A recurrent t(11;22)(p13;q12) translocation has recently been described in this tumor, and a chimeric RNA fusion product formed from the WT1 and EWS genes is detectable by reverse transcriptase-polymerase chain reaction (RT-PCR). We describe the use of a multi-faceted approach using conventional G-banding, fluorescence in situ hybridization (FISH) and RT-PCR to assist the diagnosis of a case of DSRCT with a complex variant t(11;22;21)(p13;q12;q22.1) translocation and demonstrate the value of a combined approach to genetic investigation of solid tumors.
Roberts
P
P
Regional Cytogenetics Unit, St. James's University Hospital, Leeds, UK.
Burchill
S A
SA
Beddow
R A
RA
Wheeldon
J
J
Cullinane
C
C
Lewis
I J
IJ
D000008:Abdominal Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000293:Adolescent; D001483:Base Sequence; D001853:Bone Marrow / Q000473:pathology; D018288:Carcinoma, Small Cell / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005091:Exons; D016162:Genes, Wilms Tumor; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D008969:Molecular Sequence Data; D034802:RNA-Binding Protein EWS; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012261:Ribonucleoproteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D025721:WT1 Proteins