105例非小细胞肺癌表皮生长因子受体基因突变分析

Gene mutational analysis of EGFR in 105 cases of non-small cell lung cancer

目的分析表皮生长因子受体(EGFR)在非小细胞肺癌(NSCLC)中的基因突变率及突变类型。方法收集105例肺癌组织和80例正常肺组织,采用PCR扩增和基因测序方法,对组织DNA中EGFR外显子19和21进行基因突变分析。结果非小细胞肺癌组织中EGFR基因突变率为33.33%(35/105),其中外显子19占42.86%,突变发生在第746～750位密码子,均为碱基缺失突变,外显子21突变占57.14%,突变全部是第858位密码子碱基替换突变。正常肺组织中EGFR基因均为野生型。结论 EGFR基因突变约占非小细胞肺癌总数的33.33%,其中以外显子19和21突变为主。

Objective To analyze the incidence and types of mutations in epidermal growth factor receptor（EGFR） in patients with non-small cell lung cancer（NSCLC）.Methods 105 cases of NSCLC tissue and 80 cases of normal lung samples were measured in this study.The way of PCR amplification and gene sequencing were used to analyze the mutation of EGFR in exon 19 and 21.Results 35 cases of mutations were found in 105 lung cancer samples,with an incidence of 33.33%.There were 42.86% mutation in exon 19 and 57.14% mutation in exon 21.Each of the mutations in exon 19 was deletion of bases,while mutation of exon 21 was point mutation.The EGFR gene in exon 19 and 21 was of wild type in the normal lung tissues detected.Conclusion 33.33% of NSCLC patients may have EGFR mutations especially in exon 19 and 21.