title: Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3).
abstract: FGFR1, a transmembrane receptor tyrosine kinase for fibroblast growth factors, is constitutively activated by chromosomal translocations in an atypical stem-cell myeloproliferative disorder. The FGFR1 tyrosine domain is fused to dimerization domains encoded by 4 alternative genes: FOP at 6q27, CEP110 at 9q33, FIM/ZNF198 at 13q12, and BCR at 22q11. In this study, we report the molecular cloning of the t(8;19)(p12;q13.3), the fifth translocation associated with this syndrome. Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis and fluorescence in situ hybridization (FISH) demonstrated that the translocation resulted in a long terminal repeat of human endogenous retrovirus gene (HERV-K)/fibroblast growth factor receptor 1 (FGFR1) fusion transcript that incorporated 5' sequences from HERV-K fused in frame to 3' FGFR1 sequences encoding the kinase domain. RT-PCR detected only 1 of the 2 possible fusion transcripts, HERV-K/FGFR1.
authors.affiliation: INSERM U119, the Institut de Cancérologie et d'Immunologie de Marseille, France.
authors.forename: Géraldine
authors.initials: G
authors.lastname: Guasch
authors.forename: Cornel
authors.initials: C
authors.lastname: Popovici
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Max
authors.initials: M
authors.lastname: Chaffanet
authors.forename: Pierre
authors.initials: P
authors.lastname: Pontarotti
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.forename: Marie-Josèphe
authors.initials: MJ
authors.lastname: Pébusque
mesh_terms: D024509:3' Flanking Region; D024506:5' Flanking Region; D002888:Chromosomes, Human, Pair 19; D002898:Chromosomes, Human, Pair 8; D003001:Cloning, Molecular; D020732:Cytogenetic Analysis; D020077:Endogenous Retroviruses / Q000235:genetics*; D006801:Humans; D009196:Myeloproliferative Disorders / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D020079:Terminal Repeat Sequences; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1