中国人群非小细胞肺癌表皮生长因子受体基因突变的分析

Mutational Analysis of EGFR in Chinese Non-Small Cell Lung Cancer

目的探讨中国人群非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因的突变情况。方法经病理确诊的254例NSCLC患者,采用聚合酶链反应(PCR)扩增、突变富集PCR和基因测序的方法检测EGFR第18、19、20和21外显子的突变情况。结果 204例NSCLC患者EGFR突变率为29.1%。EGFR在不同NSCLC类型中的突变率存在差异(P<0.001)。结论中国人群NSCLC患者的EGFR突变率基本与之前的报道相符,与西方人群的比例无明显差异。

Objective Epidermal growth factor receptor（EGFR） is transmembrane protein distributed in the cell membrane,it has tyrosine kinase activity.When epidermal growth factor binds to EGFR,it can activate the expression of related genes in cell nucleus,thus promote cell division and proliferation.EGFR is related to tumor cell proliferation,Angiogenesis,tumor invasion,metastasis and cell apoptosis.EGFR tyrosine kinase inhibitor（EGFR-TKI） treat tumor by blocking tumor cell signal transduction.Mutation in the EGFR-TKI structural domain focused on exon 18-21.Our research aim to explore EGFR mutation in Chinese non-small cell lung cancers（NSCLCs）.Methods 254 patients with non small cell lung cancer by pathological diagnosis,using PCR amplification,mutation enrichment PCR and gene sequencing method to detect EGFR exon 18,19,20 and 21 mutation.Results EGFR mutation ratio is 29.1% in Chinese nonsmall cell lung cancer patients.We found different ratio in depend on the type of samples（P 〈 0.001）.Conclusion The mutation ratio of Chinese NSCLC is identical to the Western.