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目的:探讨肺黏液表皮样癌的分子特征。方法:回顾性对2013年7月至2016年12月13例病理确诊并接受治疗的肺黏液表皮样癌临床特征和分子特点进行分析。结果:EGFR基因突变率为1 5.3 8%(2/13),且2例均为L861Q点突变,EGFR基因状态与性别(P=1.0 0 0)、年龄(P=1.0 0 0)、吸烟史(P=0.848)及分期(P=1.000)均无相关性;MAML2融合基因阳性率为45.45%(5/11),MAML2融合基因状态与性别(P=0.521)、年龄(P=0.521)、吸烟史(P=1.000)及分期(P=0.924)均无相关性(P>0.05)。结论:肺黏液表皮样癌中EGFR基因最常见的突变为L861Q,EGFR基因野生型患者中存在MALM2基因融合。
Objective: To investigate the molecular characteristics of pulmonary mucoepidermoid carcinoma. Methods: The clinical features and molecular characteristics of 13 cases of lung mucoepidermoid carcinoma diagnosed and treated from July 2013 to December 2016 were analyzed retrospectively. Results: The mutation rate of EGFR gene was 1 5.38% (2/13), and both of them were L861Q point mutation. The EGFR gene status and gender (P = 1.000), age (P = 1.000), smoking history (P = 0.848) and stage (P = 1.000). The positive rate of MAML2 fusion gene was 45.45% (5/11), MAML2 fusion gene status and gender (P = 0.521) Smoking history (P = 1.000) and stage (P = 0.924) had no correlation (P> 0.05). Conclusion: The most common mutation of EGFR gene in lung mucoepidermoid carcinoma is L861Q, and there is MALM2 gene fusion in wild type EGFR gene.