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Prepublished online as a Blood First Edition Paper on June 28, 2002; DOI 10.1182/blood-2002-02-0577.
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Blood, 1 January 2003, Vol. 101, No. 1, pp. 286-288
NEOPLASIA
Brief report
Endogenous retroviral sequence is fused to FGFR1 kinase in the
8p12 stem-cell myeloproliferative disorder with
t(8;19)(p12;q13.3)
Géraldine Guasch,
Cornel Popovici,
Francine Mugneret,
Max Chaffanet,
Pierre Pontarotti,
Daniel Birnbaum, and
Marie-Josèphe Pébusque
From INSERM U119, the Institut de Cancérologie et
d'Immunologie de Marseille, France; and the Laboratoire
de Cytogénétique, Hôpital du Bocage, Dijon,
France.
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.
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