EML4-ALK突变阳性的肺癌患者EGFR突变检测及其临床特征  

Detection of EGFR Mutation and Analysis of Its Clinical Features in Primary Lung Cancer Patients with EML4-ALK Fusion Gene

作　　者：冯征[1] 朱恺[1] 周勇安[1] 何铭[1] 张志培[1] 

机构地区：[1]第四军医大学唐都医院胸腔外科,陕西西安710038

出　　处：《现代生物医学进展》2016年第32期6265-6268,6205,共5页Progress in Modern Biomedicine

基　　金：国家自然科学基金项目(81172224)

摘　　要：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 frequency of EGFR mutation in primary lung cancer patients who had EML4-ALK fusion gene, and to analyze the relationship between EGFR mutation and clinical features. Methods： One hundred and six northwest Chinese patients with primary lung cancer were selected on the basis of EML4-ALK fusion gene. The EML4-ALK fusion gene was identified by single tube multiplex RT-PCR. In EML4-ALK positive samples, exon 18 to 21 EGFR mutations were detected by ARMS method. The clinical pathological features of patients with double mutations were statistically analyzed. Results： Seven specimens（6.6 %） were identified with EGFR mutation from 106 cases with EML4-ALK fusion mutation.All 7 double positive cases were EML4-ALK variant1（V1）, EGFR 19 exons deletion mutation（19-del） in 3 cases（42.9 %）, EGFR L858 R mutations in 2 cases（28.5 %）, and L861 Q G719X mutation of each 1 case（14.3 %）. In 7 cases of double positive mutation patients, 6 patients were younger than overall in patients with a median age（53）, accounting for 85.7 %. 4 cases（57.1 %） were male, all of 7 patients had no smoking history. The pathologic type included 4 case of adenocarcinoma（57.1 %）, 2 case of sarcomatoid carcinoma（28.6 %）, 1 case of mucous epidermoid carcinoma（14.3%）, in the 4 cases of adenocarcinoma, 3 cases were female. Conclusions： EML4-ALK fusion gene and EGFR mutations can coexist. In EML4-ALK positive lung cancer patients, EGFR mutation rate is 6.6 %, and all the patients with double mutations have no smoking history and most of them are young, and all the female with double mutations are adenocarcinoma.

关 键 词：EML4-ALK融合基因 EGFR突变 原发性肺癌 

分 类 号：R734.2[医药卫生—肿瘤]