title: [Detection of EWS-/FLI-1 gene fusion transcripts by RT-PCR as a tool in the diagnosis of tumors of the Ewing sarcoma group].
abstract: Recent cloning of the chromosome breakpoint regions of the reciprocal chromosomal t(11;22) (q24;q12) has revealed that the breakpoints were localized within the EWS gene (Ewings sarcoma gene) on chromosome 22 and the FLI-1 gene on chromosome 11. Thus, molecular genetic techniques were applicable for the detection of this genetic aberration, which occurs as a consistent feature of the Ewings tumor family. By reverse transcription and polymerase chain reaction technique (RT-PCR) in 78% of Ewings sarcoma derived cell lines, and in 91% of primary Ewings tumor tissue t(11;22) specific EWS/FLI-1 fusion transcripts were detected. Furthermore, in bone marrow samples from an Ewings sarcoma patient contaminating tumor cells could be shown by RT-PCR. Our results indicate that molecular genetic detection of the t(11;22) translocation opens a new modality for the differential diagnosis and the staging of Ewings tumor patients.
authors.affiliation: Gerhard-Domagk-Institut für Pathologie, Westfälische Wilhelms-Universität, Münster.
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: F
authors.initials: F
authors.lastname: van Valen
authors.forename: S
authors.initials: S
authors.lastname: Burdach
authors.forename: W
authors.initials: W
authors.lastname: Winkelmann
authors.forename: J
authors.initials: J
authors.lastname: Jürgens
authors.forename: W
authors.initials: W
authors.lastname: Böcker
mesh_terms: D001483:Base Sequence; D001859:Bone Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D002460:Cell Line; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000096:biosynthesis* / Q000235:genetics; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D006801:Humans; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000096:biosynthesis; D009687:Nuclear Proteins / Q000096:biosynthesis* / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000096:biosynthesis / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D051789:Proto-Oncogene Protein c-fli-1; D011518:Proto-Oncogene Proteins; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000096:biosynthesis* / Q000235:genetics; D012261:Ribonucleoproteins / Q000096:biosynthesis* / Q000235:genetics; D012512:Sarcoma, Ewing / Q000175:diagnosis* / Q000235:genetics*; D015534:Trans-Activators / Q000096:biosynthesis* / Q000235:genetics; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D011518:Proto-Oncogene Proteins; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins; D012261:Ribonucleoproteins; D015534:Trans-Activators