摘要目的探讨非小细胞肺癌(NSCLC)表皮生长因子受体(EGFR)基因突变的临床病理学意义。方法应用即时荧光定量聚合酶链反应(PCR)法检测1444例NSCLC患者肺癌组织中EGFR基因第19号和21号外显子突变状况，分析EGFR基因突变与年龄、性别、吸烟状况、组织学分级及临床分期之间的关系。结果1410例成功分型的NSCLC肿瘤组织中401例存在EGFR突变，突变检出率为27.8％，其中193例第19号外显子发生缺失突变，208例第21号外显子发生替代突变。EGFR突变更常见于腺癌、不吸烟或女性患者[突变率分别为33.5％ (367/1094)]、37.6％( 321/853)及43.2％ (225/521)。细支气管肺泡癌及伴细支气管肺泡癌分化特征的腺癌突变率显著高于普通腺癌[突变率分别为61.3％( 19/31)、48.0％( 12/25)及32.4％ (336/1038)]。随着吸烟暴露水平的增加，EGFR突变率呈下降趋势；女性、不吸烟、腺癌为EGFR基因突变状况的独立影响因素。结论NSCLC患者女性、不吸烟、腺癌患者突变率较高。即时荧光定量PCR技术可快速、敏感、准确地检测EGFR基因突变。

abstractsObjective To explore the relationship between the mutations of epidermal growth factor receptor (EGFR) gene and clinicopathological characteristics in patients with non-small cell lung cancers (NSCLC). Methods Paraffin-embedded tissue specimens were obtained from 1444 patients with NSCLC.The genomic DNA was extracted. Mutations of EGFR gene (exons 19 and 21 ) were detected by real-time PCR. Results DNA was available in 1410 cases. Somatic mutations of the EGFR gene were identified in 401 cases (27.8％ ). Among patients with EGFR mutations, 41.4％ (n = 166 ) had del E746-A750 of exon19, 6.7％ (n = 27) had del L747-P753insS of exon 19, 50.3％ ( n = 201 ) had L858R of exon 21,and 1.5％ (n = 6) had L861Q of exon 21. Woman, non-smoker and adenocarcinoma showed a higher percentage of EGFR mutation (43.2％, 37.6％, and 33.5％, respectively). However, there was no association among age, grades, lymph node metastasis, and TNM stages (P ＞ 0.05 ). The mutation rate of BAC subtype (61.3％, 19/31 ) and adenocarcinoma with BAC features (48.0％, 12/25 ) was significantly higher than that of conventional adenocarcinoma ( 32.4％, 336/1038 ). A further assess of the smoking status found a trend that the more increased smoking exposure, the lower the incidence of EGFR mutations.A multivariable analysis revealed that adenocarcinoma, never smoking, and female were independently associated with EGFR mutations ( odds rations = 3.381, 2.393, and 1.727, respectively). Conclusions The detection rate of EGFR mutation is higher in Chinese patients, especially in non-smoking female patients with adenocarcinoma. Real-time PCR is a sensitive and accurate method to detect the mutations of EGFR gene and can therefore provide useful information for clinical treatment.