Diagnostic value of the molecular genetic detection of the t(11;22) translocation in Ewing's tumours

Virchows Arch. 1994;425(2):107-12. doi: 10.1007/BF00230345.

Abstract

One consistent feature of the Ewing's tumour family is the presence of a balanced translocation involving band q12 and band q24 of chromosome 22 and chromosome 11. Recent cloning of the chromosome breakpoint regions of t(11;22)(q24;q12) Ewing's sarcoma translocation has revealed that the breakpoints were localized within the Ewing's sarcoma gene (EWS gene) on chromosome 22 and the Fli-1 gene on chromosome 11. Molecular genetic techniques can thus be applied to the detection of the t(11;22) translocation in Ewing's tumours. By reverse transcription and polymerase chain reaction technique (RT-PCR) 11 Ewing's tumour derived cell lines, 12 primary Ewing's tumours, and 11 tumours after treatment were analysed for the occurence of the t(11;22) translocation. Furthermore, blood and bone marrow samples from 5 patients were available for RT-PCR. In 78% of the cell lines and 91% of the primary Ewing's tumours the t(11;22) translocation was detectable by RT-PCR. In bone marrow samples from a Ewing's sarcoma patient presenting in relapse tumour cells were detected by molecular genetic analysis. Our results indicate that molecular genetic detection of the t(11;22) translocation is valuable in the differential diagnosis of small round cell tumours and will provide important information for the staging and prognosis of Ewing's tumour.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Bone Neoplasms / diagnosis
  • Bone Neoplasms / genetics*
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA-Directed DNA Polymerase
  • Sarcoma, Ewing / diagnosis
  • Sarcoma, Ewing / genetics*
  • Translocation, Genetic / genetics*
  • Tumor Cells, Cultured

Substances

  • RNA-Directed DNA Polymerase