湖南地区238 例非小细胞肺癌EGFR 基因突变状态分析

目的：评价湖南地区非小细胞肺癌患者EGFR基因突变状态及其与临床特征之间的关系。方法收集2012年1月至2013年6月中南大学湘雅医学院附属肿瘤医院手术切除的非小细胞肺癌石蜡包埋组织238例，采用PCR扩增结合直接基因测序的方法，对组织DNA中EGFR基因第18-21外显子突变进行检测。结果在238例非小细胞肺癌中，EGFR突变的检出率为35.3％（84/238）。其中，第18、19、20、21号外显子突变占总突变的比例分别为2.4％（2/84）、67.9％（57/84）、3.6％（3/84）、26.2％（22/84）。19号外显子的突变均为第746-753密码子的碱基缺失，以Del E746-A750为主；21号外显子突变类型以L858R为主。女性EGFR基因的突变率显著高于男性，不吸烟者显著高于吸烟者（P〈0.05）。而EGFR基因的突变率与非小细胞肺癌患者的年龄、临床分期和淋巴结转移均无相关性（P〉0.05）。结论湖南地区的非小细胞肺癌EGFR基因突变以19、21外显子为主，且19外显子的突变率高于21外显子，多见于女性、腺癌、不吸烟患者。

An Analysis of the EGFR Gene Mutation in 238 Patients with Non-small Cell Lung Cancer of Hunan Province

Objective To investigate the EGFR gene mutations and analyze their clinical significance in patients with non-small cell lung cancer （NSCLC） in Hunan province. Methods A total of 238 paraffin embedded tissues were taken from patients with NSCLC who were treated at Hunan Cancer Hospital from August 2011 to April 2013. The tissue DNA was extracted and EGFR gene in exon 18 to 21 was subjected for PCR amplification and direct sequencing. Results The overall mutation rate of EGFR gene was 35.3%（84/238） in 238 NSCLC patients. The mutation rates of EGFR gene at exon 18, 19, 20, 21 were respectively 2.4%（2/84）, 67.9%（57/84）, 3.6%（3/84） and 26.2%（22/84）. The mutations of EGFR exon 19 were all resulted in the deletions of codons 746 to 753, and the main mutation type was elimination of codons E746-A750. The main mutation type of exon 21 was L858R. The mutation rate of EGFR gene was higher in female patients than in male ones, and higher in non-smoking patients than in smoking ones, but had no correlation with the age, TNM stage and lymph node metastasis of patients with NSCLC （all P〉0.05）. Conclusion The EGFR mutations in NSCLC patients in Hunan province were mainly found in exon 19 and 21, and the mutation rate of exon 19 was higher than that of exon 21. The EGFR mutations were more commonly found in female, adenocarcinoma and non-smoking patients.