非小细胞肺癌EGFR基因胚系突变研究现状

The research status 05 EGFR germline mutation NSCLC.

EGFR(表皮生长因子受体)信号通路在非小细胞肺癌(Non small cell lung cancer NSCLC)的发生和发展中起重要的作用,激活后可促进肿瘤细胞的增生、分化、转移、血管生成及凋亡抑制。大约80%的NSCLC存在EGFR的表达、过度表达和突变,因此EGFR是治疗NSCLC的理想靶点。通过检测EGFR的表达和突变状态能预测EGFR酪氨酸激酶抑制剂(EGFR-TKI)治疗的疗效,成为指导晚期NSCLC临床靶向治疗的重要生物标志物。EGFR基因的体细胞突变(somatic mutation)研究为肺癌的个体化治疗提供有力的支持,但EGFR基因胚系突变(germline mutation)的研究却开展的较少。本文在于总结国际上关于EGFR基因18～21号外显子的胚系突变的研究。

Objective EGFR（epidermal growth factor receptor） signaling pathway plays a crucial role in mediating oncogenesis and tumor progression of Non small cell lung cancer NSCLC. Activating of EGFR may promote the proliferation,differentiation,transfer,angiogenin and inhibition of apoptosis. There are over expression and mutation of EGFR in about 80% NSCLC,so EGFR is the ideal target in therapy of NSCLC. Detection the expression and mutation of EGFR may prognosis the response tyrosine kinase inhibitors,so it is the important biologic marker to guide the target therapy of NSCLC. Detection of the somatic mutation of EGFR gene provides a strongly support in the individual therapy of NSCLC,but the researches of EGFR germline mutation are still rare,and more studies are needed in large cohorts of cancer patients to development of the disease. In this article we summarized the researches in germ-line mutation in 18-21 exons of EGFR gene among the whole world.