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

Autor: F. van Valen, Werner Böcker, Barbara Dockhorn-Dworniczak, Sebastian Blasius, S Burdach, K L Schäfer, Heribert Jürgens, S Strehl, W. Winkelmann, R. Dantcheva
Rok vydání: 1994
Předmět:
Zdroj: Virchows Archiv. 425:107-112
ISSN: 1432-2307
0945-6317
DOI: 10.1007/bf00230345
Popis: 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.
Databáze: OpenAIRE