Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder.
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.
Etienne
Anne
A
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.
Gelsi-Boyer
Véronique
V
Carbuccia
Nadine
N
Adélaïde
José
J
Barba
Gianluca
G
La Starza
Roberta
R
Murati
Anne
A
Eclache
Virginie
V
Birg
Françoise
F
Birnbaum
Daniel
D
Mozziconacci
Marie-Joëlle
MJ
Mecucci
Christina
C
Chaffanet
Max
M
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
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; C111777:ZMYM2 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1