摘要
ETV6-NTRK3融合基因是在研究先天性纤维肉瘤具有的染色体重排t(12;15)(p13;q25)时发现的,它编码的蛋白是通过ETV6转录因子的螺旋-环-螺旋结构域与NTRK3的蛋白酪氨酸激酶结构域连接在一起的。ETV6-NTRK3融合蛋白通过胰岛素样生长因子受体底物1连接蛋白与多种信号级联放大相连接。研究发现,一种功能性的胰岛素生长因子1受体和高重复序列的多聚体在ETV6-NTRK3融合基因的致癌性中起着重要作用,其他一些肿瘤如分泌型乳腺癌也表达ETV6-NTRK3融合基因。因此,ETV6-NTRK3融合基因可以表达在多种细胞来源的肿瘤中,这一点比较具有特殊性。
The ETV6-NTRK3 gene fusion was discovered by breakpoint analysis of the t（ 12; 15） （p13; q25） translocation associated with congenital fibrosarcoma. ETV6-NTRK3 （EN） encodes the HLH （ helix-loop-helix ） of the ETV6 transcription factor linked to the protein tyrosine kinase domain of the neurotrophin-3 receptor NTRK3. The EN chimeric oncoprotein links to multiple signaling cascades through the IRS-1 adapter protein. Recent evidence indicates that a functional insulin-like growth factor 1 receptor axis and higher order polymer formation are essential for EN oncogenesis. EN has been detected in other malignancies, including secretory breast carcinoma. This chimeric oncoprotein is therefore unique in being expressed in tumors derived from multiple cell lineages.
出处
《医学综述》
2008年第4期528-530,共3页
Medical Recapitulate
关键词
融合基因
酪氨酸激酶
诊断
Fusion gene
Tyrosine kinase
Diagnosis
