摘要目的检测非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因第19和21号外显子突变情况并探讨其与临床病理特征及预后的关系。方法采用聚合酶链反应(PCR)技术对282例NSCLC患者手术标本的石蜡包埋癌组织EGFR基因第19和21号外显子片段进行扩增并测序，分析EGFR突变与临床病理特征及预后的关系。结果282例NSCLC组织中120例(42.6％)存在EGFR基因突变，包括第19号外显子突变61例，第21号外显子突变66例，其中7例第19和21号外显子同时存在突变。女性EGFR突变率(55.2％，53/96)高于男性的(36.0％，67/186)，年龄51～60岁患者EGFR突变率(51.3％，39/76)高于≤50岁者(30.4％，21/69)和＞60岁者(43.8％，60/137)，非吸烟者的EGFR突变率(54.3％，69/127)高于吸烟者的(32.9％，51/155)，EGFR突变与吸烟呈负相关（P =0.000，rs=-0.216）；腺癌（47.8％，64/134）、细支气管肺泡癌(73.0％，27/37)、腺鳞癌(7/9)中EGFR突变率均明显高于鳞癌(23.6％，17/72)、其他类型(16.7％，5/30)中的突变率，分化程度中高、中、低、未分化的EGFR突变率分别为55.7％ (68/122)、50.8％( 30/59)、22.7％( 17/75)、19.2％ (5/26)，随着分化程度的降低而降低，EGFR突变与肺癌组织分化程度呈正相关(P =0.000，rs=0.296);EGFR基因突变型的患者生存期明显较野生型的长(P =0.027)，EGFR突变与临床TNM分期不相关。结论EGFR基因突变在女性患者、年龄51 ～60岁患者、非吸烟者及腺癌、细支气管肺泡癌、腺鳞癌中多见，EGFR突变与肺癌组织分化程度呈正相关，存在基因突变的患者预后较好，有利于患者靶向治疗的临床筛选。

abstractsObjective To investigate epidermal growth factor receptor(EGFR) gene mutations in exons 19 and 21 of patients with non-small cell lung cancer (NSCLC) and to analyze the relationship of EGFR mutations with clinicopathological features and prognosis. Methods The EGFR gene exons 19 and 21 of paraffin-embedded tumor tissue were amplified by PCR, followed by direct sequencing in 282 surgically-removed specimens of NSCLC. The relationship of EGFR gene mutations in NSCLC with clinicopathological features and prognosis were analyzed. Results EGFR mutations were detected in 120 of 282 (42.6％ ) patients with NSCLC. There were 61 cases of the mutations in exon 19 and 66 cases of the mutations in exon 21, including 7 cases of the mutations both in exons 19 and 21. Mutations were more frequently observed in women ( 55.2％ , 53/96 ) than in men ( 36.0％, 67/186 ), in 51 to 60-years-old (51.3％ ,39/76) than ≤50-years-old(30.4％ ,21/69) and ＞ 60-years-old (43.8％ ,60/137), in non-smokers (54.3％, 69/127 ) than smokers (32.9％, 51/155 ), there was negative correlation of EGFR mutations with smoking status (P = 0.000,rs = -0.216). EGFR mutations were more frequently observed in adenocarcinomas (47.8％, 64/134 ), bronchiolo-alveolar carcinomas ( 73.0％, 27/37 ), adenosquamous carcinomas( 7/9 ) than squamous cell carcinomas ( 23.6％, 17/72 ) and other types ( 16.7％, 5/30 ). The EGFR mutation rate in the well differentiated, the middle differentiated, the poorly differentiated and the undifferentiated was 55.7％ ( 68/122 ), 50.8％ ( 30/59 ), 22.7％ ( 17/75 ), 19.2％ ( 5/26 ) respectively,the incidences of EGFR mutations decreased with the degrading of differentiation, there was positive correlation of EGFR mutations with differentiation of lung cancer ( P = 0.000, rs = 0.296). The patients with EGFR mutations had better prognosis than those with wild-type EGFR ( P = 0.027 ). There was no association of EGFR mutations with clinical TNM stage. Conclusions EGFR mutations occur frequently in females,non-smokers and adenocarcinomas, bronchioloalveolar carcinomas, and adenosquamous carcinomas. The patients with EGFR mutations have better prognosis. The results may offer a practical approach to select the patients who may benefit from anti-EGFR target therapy.