907例非小细胞肺癌表皮生长因子受体基因突变分析

Analysis of epidermal growth factor receptor gene mutation in 907 cases of non-small cell lung cancer

目的探讨非小细胞肺癌(NSCLC)表皮生长因子受体(EGFR)基因突变特点及与临床特征的关系。方法收集907例NSCLC肿瘤组织,分别提取DNA,采用探针扩增阻滞突变系统聚合酶链反应(ARMS-PCR)扩增EGFR基因29种突变。结果 907例NSCLC中,359例(39.6%)EGFR基因有突变,其中18、19、20、21外显子单独突变分别为6例(0.7%)、152例(16.8%)、8例(0.9%)、170例(18.7%),共见突变类型7种;热点突变类型为19外显子缺失(构成比42.3%)和21外显子L858R突变(构成比45.1%)。女性患者突变率高于男性患者(56.9%vs 25.7%,P<0.05),腺癌患者突变率高于鳞癌患者(49.0%vs 10.0%,P<0.05),未发现EGFR基因突变率与标本来源、年龄和肿瘤细胞比例相关。结论 NSCLC患者EGFR基因突变以19、21外显子突变为主,突变率以腺癌患者和女性较高。

Objective To investigate the epidermal growth factor receptor （EGFR） gene mutations among non - small cell lung cancer （NSCLC） patients in Guangdong and to analyze the correlation between mutations and clinical fea- tures. Methods Specimens of lung cancer tissues were collected from 907 NSCLC patients in our hospital. DNA was ex- tracted. Twenty - one kinds of EGFR gene mutation were amplified by ARMS - PCR. Results EGFR gene mutation in 359 （39. 6% ） of 907 NSCLC patients was identified, among which, mutations located at exon 18, 19, 20 and 21 were re- ported in 6 cases （0.7%） , 152 cases （ 16. 8% ） , 8 cases （0.9%） and 170 cases （ 18.7% ） , respectively. The muta- tion of deletion at exon 19 （42.3%） and L858R mutation at exon 21 （45. 1% ） were the predominant mutations in 7 mu- tations. Female patients had significantly higher mutation rate than male patients （56. 9% vs. 25.7% , P 〈0. 05 ） , while adenocarcinoma patients had significantly higher mutation rate than squamous carcinoma patients （49.0% vs. 10. 0% , P 〈 0. 05 ）. No significant correlation was found among sample source, age and cancer cell ratio. Conclusion Exon 19 and 20 mutation are predominant in EGFR geue mutation in NSCLC in Guangdong, adenocarcinoma and female patients pres- ent with higher mutation rates.