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

B. Dockhorn-Dworniczak, K. L. Schäfer, R. Dantcheva, S. Blasius, W. Böcker, S. Burdach, S. Strehl, W. Winkelmann, F. van Valen, H. Jürgens

Research output: Contribution to journalArticlepeer-review

53 Scopus citations

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.

Original languageEnglish
Pages (from-to)107-112
Number of pages6
JournalVirchows Archiv
Volume425
Issue number2
DOIs
StatePublished - Sep 1994
Externally publishedYes

Keywords

  • Ewing's tumour
  • Polymerase chain reaction
  • Reverse transcription
  • Translocation

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