title: Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder.
abstract: Tyrosine kinases activated by mutation or translocation are involved in the chronic phase of myeloproliferative disorders. Complementary or alternative events are not so well characterized. We report here a case of t(8;13) generating a ZNF198-FGFR1 fusion kinase gene on the derivative chromosome 13. ZNF198-FGFR1 mRNA, but not FGFR1-ZNF198, was detected by polymerase chain reaction amplification. By using fluorescence in situ hybridization with BAC clones, we mapped a deletion of about 2 megabases on the derivative chromosome 8, including the reciprocal FGFR1-ZNF198 fusion gene and the surrounding genes from 8p11 and 13q12. Potential tumor suppressor genes affected by the deletion by loss (IFT88, CRYL1, TACC1) or break (LATS2) may participate in the malignant process.
authors.affiliation: Centre de Recherche en Cancérologie de Marseille, Départements d'Oncologie Moléculaire et d'Hématologie Moléculaire, UMR599 INSERM, Institut Paoli-Calmettes, 27 Bd. Leï Roure, 13009, Marseille, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Etienne
authors.forename: Véronique
authors.initials: V
authors.lastname: Gelsi-Boyer
authors.forename: Nadine
authors.initials: N
authors.lastname: Carbuccia
authors.forename: José
authors.initials: J
authors.lastname: Adélaïde
authors.forename: Gianluca
authors.initials: G
authors.lastname: Barba
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Anne
authors.initials: A
authors.lastname: Murati
authors.forename: Virginie
authors.initials: V
authors.lastname: Eclache
authors.forename: Françoise
authors.initials: F
authors.lastname: Birg
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.forename: Marie-Joëlle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Christina
authors.initials: C
authors.lastname: Mecucci
authors.forename: Max
authors.initials: M
authors.lastname: Chaffanet
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D020223:Chromosome Painting; D002882:Chromosomes, Human, Pair 13; D002898:Chromosomes, Human, Pair 8; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D050939:Gene Fusion; D016147:Genes, Tumor Suppressor; D006801:Humans; D007621:Karyotyping; D008297:Male; D009196:Myeloproliferative Disorders / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors; D014158:Transcription, Genetic; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; C111777:ZMYM2 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1