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

Cancer Genet Cytogenet. 1999 Jan 1;108(1):19-25. doi: 10.1016/s0165-4608(98)00103-4.

Abstract

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.

Publication types

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

MeSH terms

  • Abdominal Neoplasms / diagnosis*
  • Abdominal Neoplasms / genetics*
  • Abdominal Neoplasms / pathology
  • Abdominal Neoplasms / surgery
  • Adolescent
  • Base Sequence
  • Bone Marrow / pathology
  • Carcinoma, Small Cell / diagnosis*
  • Carcinoma, Small Cell / genetics*
  • Carcinoma, Small Cell / pathology
  • Carcinoma, Small Cell / surgery
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 22*
  • DNA-Binding Proteins / genetics
  • Diagnosis, Differential
  • Exons
  • Genes, Wilms Tumor
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Male
  • Molecular Sequence Data
  • RNA-Binding Protein EWS
  • Reverse Transcriptase Polymerase Chain Reaction
  • Ribonucleoproteins / genetics
  • Transcription Factors / genetics
  • Translocation, Genetic*
  • WT1 Proteins

Substances

  • DNA-Binding Proteins
  • Heterogeneous-Nuclear Ribonucleoproteins
  • RNA-Binding Protein EWS
  • Ribonucleoproteins
  • Transcription Factors
  • WT1 Proteins