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目的:检测表皮生长因子受体(epidermal growth factor receptor,EGFR)在间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)融合基因突变的原发性肺癌(primary lung cancer)人群中的突变率,并分析其与病人临床病理特征间的关系。方法:入选的106例病例均为中国西北五省人群,且经ALK融合基因检测为阳性。将106例患者的组织标本采用ARMS方法检测EGFR基因18-21外显子的突变情况,统计分析双突变患者的临床病理特征。结果:106例ALK融合基因突变阳性的原发性肺癌患者的组织标本,有7例(6.6%)同时存在EGFR突变,其中19外显子缺失突变(19-del)的3例(42.9%),L858R突变的2例(28.5%),L861Q和G719X突变的各1例(14.3%);7例ALK和EGFR双突变的患者中ALK融合基因的突变均为EML4-ALK突变亚型1(variant 1,V1)。7例双阳性的患者中,6例患者的年龄小于总体患者的中位年龄(53岁),占85.7%;男性患者4例,占57.1%;不吸烟患者7例,占100%;腺癌患者4例,占57.1%,其中女性3例;肉瘤样癌2例,占28.6%;粘液表皮样癌1例,占14.3%。结论:EML4-ALK融合基因和EGFR突变能够共存,在EML4-ALK阳性的肺癌患者中,EGFR的突变率为6.6%,双突变的患者大多年轻且均无吸烟史,且双突变的女性患者均为腺癌。
OBJECTIVE: To detect the mutation rate of epidermal growth factor receptor (EGFR) in primary lung cancer patients with anaplastic lymphoma kinase (ALK) fusion gene mutation Its relationship with the clinicopathological features of patients. Methods: The 106 cases selected were all from five provinces in northwestern China and tested positive by ALK fusion gene. The tissue samples of 106 patients were detected by ARMS EGFR gene 18-21 exon mutation, statistical analysis of double-mutation patients with clinicopathological features. Results: There were 7 cases (6.6%) with EGFR mutation in 106 cases of primary lung cancer patients with ALK fusion gene mutation. There were 3 (42.9%) cases in which 19 exon 19 mutation (19-del) , 2 cases (28.5%) of L858R mutation and 1 case (14.3%) of L861Q and G719X mutations respectively. The mutations of ALK fusion gene in 7 ALK and EGFR double mutant patients were all EML4-ALK mutant subtype 1 1, V1). Of the 7 double-positive patients, 6 were younger than the median age of the overall patient (53 years), accounting for 85.7%; 4 were male patients, accounting for 57.1%; 7 were nonsmokers, accounting for 100%; adenocarcinoma There were 4 patients (57.1%), including 3 females, 2 sarcomatoid carcinomas (28.6%) and 1 mucoepidermoid carcinoma (14.3%). CONCLUSIONS: EML4-ALK fusion gene and EGFR mutation coexist. In EML4-ALK-positive lung cancer patients, the EGFR mutation rate was 6.6%. Patients with double mutations were mostly younger and had no history of smoking. Both female patients with double mutations For adenocarcinoma.