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Prepublished online as a Blood First Edition Paper on June 28, 2002; DOI 10.1182/blood-2002-02-0577.
Submitted February 22, 2002
Accepted June 6, 2002
Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem cell myeloproliferative disorder with t(8;19)(p12;q13.3)
Geraldine Guasch, Cornel Popovici, Francine Mugneret, Max Chaffanet, Pierre Pontarotti, Daniel Birnbaum, and Marie-Josephe Pebusque*
* Corresponding author; email: pebusque{at}inserm-adr.univ-mrs.fr.
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 four 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 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 one of the two possible fusion transcripts, i.e., HERV-K/FGFR1.
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