title: Diagnostic value of the molecular genetic detection of the t(11;22) translocation in Ewing's tumours.
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.
authors.affiliation: Gerhard Domagk Institute of Pathology, Westfälische Wilhelms-University, Münster, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Dockhorn-Dworniczak
authors.forename: K L
authors.initials: KL
authors.lastname: Schäfer
authors.forename: R
authors.initials: R
authors.lastname: Dantcheva
authors.forename: S
authors.initials: S
authors.lastname: Blasius
authors.forename: W
authors.initials: W
authors.lastname: Winkelmann
authors.forename: S
authors.initials: S
authors.lastname: Strehl
authors.forename: S
authors.initials: S
authors.lastname: Burdach
authors.forename: F
authors.initials: F
authors.lastname: van Valen
authors.forename: H
authors.initials: H
authors.lastname: Jürgens
authors.forename: W
authors.initials: W
authors.lastname: Böcker
mesh_terms: D001483:Base Sequence; D001859:Bone Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012194:RNA-Directed DNA Polymerase; D012512:Sarcoma, Ewing / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D012194:RNA-Directed DNA Polymerase