目的探讨原发性肺腺癌表皮生长因子受体(EGFR)基因突变状态与临床特征及影像学特点的相关性。方法用焦磷酸测序法检测164例经手术确诊的肺腺癌患者EGFR基因18、19、20和21外显子突变状态,结合临床特征、胸部CT影像学特点进行回顾性分析。结果总体EGFR基因突变率为53.0%,其中女性为64.7%,男性为40.5%,两者差异具有统计学意义(P=0.002);不吸烟者为61.7%,吸烟指数<400者为61.1%,吸烟指数≥400者为25.6%,差异具有统计学意义(P<0.001);肺腺癌中高分化组的突变率为81.3%,中分化组为55.8%,低分化组为47.6%,差异具有统计学意义(P=0.039);家族史、淋巴结转移、TNM分期与突变率无明显相关。CT像上,伴空泡或空洞性病变组突变率高(72.4%)(P=0.021);肿瘤直径、磨玻璃影、毛刺征、分叶征、血管集束征与突变率无明显相关。结论原发性肺腺癌中,EGFR基因在女性、非吸烟和吸烟指数<400者及病理上分化程度高的患者中突变率高;影像学提示肿瘤伴有空泡或空洞性病变组突变率高。 Objective To investigate the relationship between EGFR mutation status and clinical features and imaging features in patients with primary lung adenocarcinoma. Methods The exon mutation status of EGFR gene 18, 19, 20 and 21 in 164 patients with lung adenocarcinoma confirmed by pyrosequencing was detected by pyrosequencing method. The clinical features and CT features of chest CT were retrospectively analyzed. Results The overall mutation rate of EGFR gene was 53.0%, of which 64.7% in women and 40.5% in males. The difference was statistically significant (P = 0.002), 61.7% in non-smokers, 61.1% in smokers with index <400, The difference was statistically significant (P <0.001) between smoking group and control group (P <0.001). The mutation rate in well-differentiated group was 81.3%, in moderately differentiated group was 55.8%, in poorly differentiated group was 47.6%, the difference was statistically significant Significance (P = 0.039); family history, lymph node metastasis, TNM stage and mutation rate was not significantly correlated. There was a high mutation rate (72.4%) in CT images with vacuolar or hollow lesions (P = 0.021). There was no significant correlation between tumor diameter, ground-glass opacity, spiculation, lobulation, and vascular bundles. Conclusion In primary lung adenocarcinoma, the EGFR gene has a high mutation rate in women, non-smoking and smoking index <400, and in patients with high pathological differentiation. The imaging results suggest that the mutation rate of the tumor with vacuolization or empty lesions high.