Guasch Géraldine, Popovici Cornel, Mugneret Francine, Chaffanet Max, Pontarotti Pierre, Birnbaum Daniel, Pébusque Marie-Josèphe
INSERM U119, the Institut de Cancérologie et d'Immunologie de Marseille, France.
Blood. 2003 Jan 1;101(1):286-8. doi: 10.1182/blood-2002-02-0577. Epub 2002 Jun 28.
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.
FGFR1是一种成纤维细胞生长因子的跨膜受体酪氨酸激酶，在一种非典型干细胞骨髓增殖性疾病中通过染色体易位被组成性激活。FGFR1酪氨酸结构域与由4个替代基因编码的二聚化结构域融合：位于6q27的FOP、位于9q33的CEP110、位于13q12的FIM/ZNF198以及位于22q11的BCR。在本研究中，我们报告了t(8;19)(p12;q13.3)的分子克隆，这是与该综合征相关的第五种易位。逆转录聚合酶链反应（RT-PCR）分析和荧光原位杂交（FISH）表明，该易位导致了人类内源性逆转录病毒基因（HERV-K）/成纤维细胞生长因子受体1（FGFR1）融合转录本的长末端重复序列，该转录本包含来自HERV-K的5'序列，与编码激酶结构域的3' FGFR1序列框内融合。RT-PCR仅检测到2种可能的融合转录本中的1种，即HERV-K/FGFR1。
