139例肺癌小活检标本EGFR,ALK,ROS1基因状态分析

Analysis of the mutation state of EGFR, ALK and ROS1 genes in 139 biopsy specimens of lung cancer

目的:探讨肺癌小活检标本EGFR,ALK,ROS1基因突变状态。方法:回顾性分析2014年1月至2017年1月南京中医药大学附属医院经活检初诊为原发性肺癌的139例患者,分析其临床病理特征及EGFR,ALK,ROS1基因突变状态。结果:入组的139例患者中,EGFR敏感突变阳性率为38.85%(54/139),其中腺癌突变率为49.52%(52/105),鳞状细胞癌突变率为4.17%(1/24),非小细胞癌(非特指型)突变率为1 2.5 0%(1/8),腺癌患者突变率明显高于其他类型癌患者(P=0.0 0 0 1)。男性患者突变率为3 0.3 9%(3 1/1 0 2),女性患者突变率为6 2.1 6%(2 3/3 7),女性患者突变率显著高于男性(P=0.0014)。不吸烟患者突变率为53.13%(34/64),吸烟患者突变率为2 6.6 7%(2 0/7 5),不吸烟者突变率显著高于吸烟者(P=0.0 0 1 7)。临床I,I I,I I I期患者突变率分别为33.33%(1/3),0.00%(0/3),8.70%(2/23),IV期患者突变率为47.19%(42/89),分期未知者突变率为42.86%(9/21),IV期患者突变率显著高于I,II,III期患者(P=0.0038)。EGFR的突变类型包括:E19-del占44.44%(24/54),L858R占51.85%(28/54),L861Q占1.85%(1/54),S768I占1.85%(1/54)。A LK融合基因检出率为3.28%(2/61),均为不吸烟的腺癌患者。ROS1融合基因检出率1.72%(1/58),为不吸烟的男性鳞状细胞癌患者。结论:EGFR突变更常见于女性、非吸烟及腺癌患者。ALK融合见于不吸烟的腺癌患者。ROS1融合见于鳞状细胞癌患者。

Objective： To evaluate EGFR, ALK and ROS1 gene mutation rate in biopsy specimens of primary lung cancer. Methods： Between January 2014 and January 2017, 139 biopsy specimens of primary lung cancer were included in this study and the clinicopathological data, and EGFR, ALK and ROS1 mutation status were reviewed. Results： The EGFR-TKIs sensitive mutations were detected in 38.85%（54/139） patients, and the mutation rate of adenocarcinoma was 49.52%（52/105）, mutation rate of squamous cell carcinoma was 4.17%（1/24）, and mutation rate of NSCLC-NOS was 12.50%（1/8）. The mutation rate of adenocarcinoma was significantly higher than other types of lung cancer（P=0.0001）. 30.39%（31/102） male and 62.16%（23/37） female patients carried EGFR mutation respectively. The mutation rate of female patients was significantly higher than that of male patients（P=0.0014）. The mutation rates of non-smokers and smokers were 53.13%（34/64） and 26.67%（20/75） respectively, and the mutation rate of non-smokers was significantly higher than that of smokers（P=0.0017）. Mutation rates in patients with clinical stage I, stage II and stage III were 33.33%（1/3）, 0.00%（0/3）, and 8.70%（2/23） separately, and the mutation rate of stage IV patients was 47.19%（42/89）, and the mutation rate in patients with stage unknown was 42.86%（9/21）. The mutation rate of stage IV patients was significantly higher than that of patients with stage I, II and III（P=0.0038）. The types of EGFR mutation included： E19-del accounting for 44.44%（24/54）, L858 R accounting for 51.85%（28/54）, L861 Q and S768 I accounting for 1.85%（1/54） separately. ALK fusion gene positive rate was 3.28%（2/61）, all of which were non-smokers with adenocarcinoma. ROS1 fusion gene positive rate was 1.72%（1/58）, who was a nonsmoking man with squamous cell carcinoma. Conclusion： EGFR-TKIs sensitive mutations are commonly seen in females, non-smokers and adenocarcinoma patients. ALK fusion is found in non-smokers with adenocarcinoma. ROS1 fusion can be detected in patients with squamous cell carcinoma.