Novel breakpoints of the EWS gene and the WT1 gene in a desmoplastic small round cell tumor

Cancer Genet Cytogenet. 1998 Oct 15;106(2):156-8. doi: 10.1016/s0165-4608(98)00062-4.

Abstract

We report here a 15-year-old boy with an intraabdominal desmoplastic small round cell tumor (DSRCT). Cytogenetic analysis of the tumor cells showed the chromosomal translocation (11;22). Reverse-transcriptase polymerase chain reaction and sequencing analysis revealed a chimeric transcriptional message of the EWS gene exon 10 fused to the WT1 gene exon 8. The typical chimeric transcript seen in DSRCT is an in-frame fusion of EWS exon 7 to WT1 exon 8. The tumor in this case had a novel and longer chimeric transcript, which should be a potent transcription factor. Genetic analysis is a very powerful and specific aid in the differential diagnosis of small round cell tumors.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Neoplasms / genetics*
  • Adolescent
  • Carcinoma, Small Cell / genetics*
  • Chromosome Breakage*
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 22
  • DNA-Binding Proteins / genetics*
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Humans
  • Male
  • Oncogene Proteins, Fusion / analysis
  • RNA-Binding Protein EWS
  • Ribonucleoproteins / genetics*
  • Transcription Factors / genetics*
  • Translocation, Genetic
  • WT1 Proteins

Substances

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