An EWS/ERG fusion with a truncated N-terminal domain of EWS in a Ewing's tumor

Int J Cancer. 1996 Jul 29;67(3):339-42. doi: 10.1002/(SICI)1097-0215(19960729)67:3<339::AID-IJC6>3.0.CO;2-S.

Abstract

As a result of chromosome translocations, the EWS gene is fused to a variety of transcription factors in human solid tumors. Up to now, gene fusions of EWS with 6 different partners have been described. In all fusions presently reported the entire N-terminal domain of EWS (NTD-EWS) composed of 265 amino acids encoded by the first 7 exons of EWS was always included in the chimeric proteins, suggesting that the integrity of this domain was mandatory for the oncogenic property of the fusion proteins. We report the molecular characterization of a Ewing tumor demonstrating a reciprocal t(21;22)(q22;q12) translocation. No EWS/ERG fusion transcript could be detected with previously reported RT-PCR primers. However, Southern-blot experiments demonstrated that the EWS gene was disrupted within a 2-kb PstI genomic fragment including exon 7. PCR amplification and sequence of the translocation junction fragments indicated that the breakpoint was localized within exon 7 of EWS. The resulting fusion gene encoded a chimeric protein in which a truncated NTD-EWS was linked, in frame, to the ETS DNA-binding domain of ERG. This observation indicates that, to avoid false negative results, RT-PCR-based diagnosis of tumors with EWS fusion transcripts should now include the search for such rare variants. It also suggests that the amino-terminal portion of the NTD-EWS, but not its carboxy terminal part, might be fundamental for the oncogenicity of the chimeric proteins.

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Bone Neoplasms / genetics*
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 22
  • Exons
  • Female
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Humans
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics
  • Polymerase Chain Reaction
  • Protein Structure, Tertiary
  • RNA-Binding Protein EWS
  • Recombinant Fusion Proteins / genetics*
  • Ribonucleoproteins / chemistry*
  • Ribonucleoproteins / genetics*
  • Sarcoma, Ewing / genetics*
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • Translocation, Genetic

Substances

  • Heterogeneous-Nuclear Ribonucleoproteins
  • Neoplasm Proteins
  • RNA-Binding Protein EWS
  • Recombinant Fusion Proteins
  • Ribonucleoproteins
  • Transcription Factors

Associated data

  • GENBANK/S82335
  • GENBANK/S82338