目的：探讨使用超级扩增阻滞突变系统（Super-ARMS）法检测云南地区非小细胞肺癌（NSCLC）患者外周血中表皮生长因子受体（EGFR）基因突变与临床病理特征之间的关系。方法: 收集2017 年1 月到2018 年12 月云南省肿瘤医院分子诊断分中心共检测的222 例NSCLC患者外周血，以Super-ARMS法检测外周血浆中EGFR基因突变并分析其与临床病理特征的关系，同时分析影响EGFR突变的独立危险因素。结果: 222 例NSCLC患者的外周血浆中，EGFR基因突变阳性81 例、突变率为36.5%，其中19 号外显子缺失和L858R基因点突变最常见（占总突变的75.3%）。女性突变较男性高（45.9% vs 27.0%）；<60 岁患者突变率高于≥60 岁患者（43.2% vs 28.8%）（均P<0.05 或P<0.01）；无吸烟史、无根治性手术史、腺癌、晚期和无化疗史患者EGFR基因突变率较高(43.9% vs 21.6%，39.2% vs 21.2%，43.9% vs 4.8%，39.7% vs 23.3%、44.0% vs 23.5%)（P<0.05 或P<0.01）。多因素分析显示，年轻、无吸烟史、腺癌、无手术史是EGFR基因突变的独立危险因素（均P<0.01）。结论: 在云南地区NSCLC患者外周血浆中，年龄<60 岁、腺癌、不吸烟患者EGFR基因突变率更高，Super-ARMS法对肺癌患者外周血EGFR突变检测更灵敏。

Objective: To detect the mutation of epidermal growth factor receptor (EGFR) gene in peripheral blood of non-small cell lung cancer (NSCLC) patients in Yunnan area with Super-ARMS, and to explore its correlation with clinicopathological characteristics.Methods: A total of 222 blood samples from patients with NSCLC were collected between January 2017 to December 2018 in the Molecular Diagnostic Center of Yunnan Cancer Hospital. The EGFR gene mutation in peripheral blood samples was detected by Super-ARMS, and the relationship between EGFR gene mutation and clinicopathological features was analyzed. Meanwhile, the independent risk factors influencing EFGR mutation were also analyzed. Results: In the peripheral blood of 222 NSCLC patients, there were 81 cases (36.5%) with EGFR gene mutation. Among them, exon 19 deletion and L858R gene point mutation were the most common (75.3%of total mutation); female patients had a higher mutation rate than male patients (45.9% vs 27.0%); patients <60 years old had a higher incidence of mutation than patients ≥60 years old (43.2% vs 28.8%) (P<0.05 or P<0.01); moreover, patients with no history of smoking,no history of radical surgery, adenocarcinoma, advanced stage and no history of chemotherapy had higher incidence of EGFR mutation (43.9% vs 21.6%, 39.2% vs 21.2%, 43.9% vs 4.8%, 39.7% vs 23.3% and 44.0% vs 23.5%) (P<0.05 or P<0.01). Multivariate logistic analysis showed that young, no smoking history, adenocarcinoma and no surgical history were independent risk factors for EGFR gene mutation (all P<0.01). Conclusion: In the peripheral blood of patients with NSCLC in Yunnan, the mutation rate of EGFR gene is higher in patients with age<60 years old, adenocarcinoma and non-smoking. Super-ARMS method is more sensitive in the detection of EGFR mutation in peripheral blood of lung cancer patients.

国家自然科学基金资助项目（No. 8186110513）；云南省科技计划资助项目(No. 2017FA037, No. 2017NS202）