目的：探讨利用胸腔积液检测EGFR基因突变的临床可行性。方法：在分别获取肺腺癌病人的肿瘤组织和胸腔积液以后，使用 ARMS-PCR法对肿瘤组织EGFR基因突变情况进行检测分析。结果：（1）从EGFR基因突变率上来看，女性病人普遍高于男性病人(P=0.013)，非吸烟患者高于吸烟病人(P=0.002)。（2）两种检测样本中的EGFR基因突变热点都包含19-del突变、L858R突变。（3）配对样本中突变率无明显差异(P=0.532)，通过分析EGFR基因突变检测情况可得，突变一致率高达84.78%，一致性Kappa值约0.697，表明这二者有良好的一致性(P<0.001)。结论：（1）在晚期肺腺癌病人中，EGFR基因突变风险相对就高的病人包括女性病人和非吸烟病人，这种基因的突变率并不会受到肿瘤组织获取方式和病人年龄的影响。（2）本次研究获取的两种检测样本中的EGFR基因突变热点均有19-del突变、L858R突变。（3）EGFR基因突变在两种检测样本中有良好的一致性，在临床上可以考虑使用患者胸腔积液对EGFR基因突变情况进行检测。

Objective: To explore the clinical feasibility of detecting EGFR gene mutation in pleural effusion. Methods: after obtaining the tumor tissue and pleural effusion of patients with lung adenocarcinoma, the EGFR gene mutation in tumor tissue was detected and analyzed by ARMS-PCR. Results: (1) in terms of EGFR gene mutation rate, female patients were generally higher than male patients (P = 0.013), and non-smoking patients were higher than smoking patients (P = 0.002). (2) The hot spots of EGFR gene mutation in the two test samples include 19 del mutation and L858R mutation. (3) There was no significant difference in mutation rate among paired samples (P = 0.532). By analyzing the mutation detection of EGFR gene, it was found that the mutation consistency rate was as high as 84.78%, and the consistency kappa value was about 0.697, indicating that the two had good consistency (P < 0.001). Conclusion: (1) among patients with advanced lung adenocarcinoma, patients with relatively high risk of EGFR gene mutation include female patients and non-smoking patients. The mutation rate of this gene is not affected by the way of tumor tissue acquisition and patient age. (2) The hot spots of EGFR gene mutation in the two test samples obtained in this study have 19 del mutation and L858R mutation. (3) EGFR gene mutation has good consistency in the two test samples. In clinical practice, it can be considered to use patients' pleural effusion to detect EGFR gene mutation.

内蒙古自治区自然科学基金项目（2017MS08138）