EML4-ALK 融合基因在Ⅰ期肺癌患者中分布趋势及临床意义  

Distribution and clinical significance of EML4-ALK fusion gene in phase Ⅰ lung cancer

作　　者：孙建[1] 丁嘉安[2] 张宪伟[1] 朱俊杰[2] 凌臻栋[1] 陶增跃[1] 

机构地区：[1]上海市第一人民医院分院胸外科,200081 [2]上海市肺科医院胸外科,200433

出　　处：《中华胸心血管外科杂志》2017年第1期41-43,50,共4页Chinese Journal of Thoracic and Cardiovascular Surgery

基　　金：虹口区卫生局医学科研课题（1302-09）

摘　　要：目的：检测Ⅰ期肺癌患者EML4-ALK融合基因突变情况，初步探讨EML4-ALK融合基因在Ⅰ期肺癌患者中的突变分布特征及其在肺癌治疗中的临床意义。方法收集2013年2月至2014年12月在上海市第一人民医院分院胸外科接受手术治疗，病理分期为Ⅰ期的256例肺癌患者肿瘤组织，提取RNA，逆转录成cDNA，采用ARMS法对EML4-ALK融合基因进行检测，根据阳性质控、阴性质控和RNA质控对EML4-ALK融合类型分析判断。结果256例Ⅰ期肺癌患者中17例（6.64％） EML4-ALK融合基因突变，肺腺癌的突变率（16／207，7.73％）高于肺鳞癌（1／39，2.56％）、肺腺鳞癌（0／4，0）和大细胞癌（0／5，0）的突变率；年龄＜63岁肺癌患者的突变率（14／139，10.07％）显著高于年龄≥63岁的肺癌患者的突变率（3／117，2.56％），P ＝0.009；EML4-ALK 融合与肿瘤侵及脏层胸膜组发生率（9／80，11.25％）显著高于未侵及脏层胸膜组发生率（8／176，4.55％），P＝0.045；EML4-ALK在早期肺癌中更倾向于1型融合。结论 EML4-ALK融合基因的发生与患者的年龄和肿瘤是否侵及脏层胸膜相关，在Ⅰ期肺癌患者中多发生1型融合。Objective To detect the mutation frequency of EML4-ALK fusion gene in lung cancer patients, and to inves-tigate the distribution of mutation character for EML4-ALK fusion gene in Ⅰ stage lung cancer patients and clinical features as well as provide a reference for the individual treatment of lung cancer .Methods 256 fresh tumor tissue specimens of lung cancer patients were screened from the specimen bank of our hospital and all the patients had accepted the surgical treatment from February 2013 to December 2014.Total RNA was extracted and then be transcribed into cDNA, the amplification-refrac-tory mutation system（ARMS） was used to detect mutation of EML4-ALK fusion gene.The results according to the positive con-trol, negative control and RNA quality control for EML4-ALK fusion type were analyzed.Results During the 256 patients ofⅠ stage lung cancer, there were 17 patients（6.64%） had mutations in EML4-ALK fusion gene.In lung adenocarcinoma mu-tation rate（16/207, 7.73%） was higher than that of lung squamous cell mutation rate（1/39, 2.56%）, lung adeno-squamous mutation rate（0/4, 0） and large cell carcinoma（0/5, 0） of the mutation rate;young lung cancer patients（ 〈63 years） of the mutation rate（14/139, 10.07%） was significantly higher than the high age of lung cancer patients（≥63 years old） mutation rate（3/117, 2.56%）, P =0.009.EML4-ALK fusion with tumor invasion and visceral pleura group incidence （9/80, 11. 25%） was significantly higher than that of non-invasive and visceral pleura group incidence rate（8/176, 4.55%）, P =0.045.Conclusion The occurence of EML4-ALK fusion correlates with patients’ age as well as whether visceral pleura is in-vaded, type 1 EML4-ALK fusion was detected more in phase I lung cancer patients.

关 键 词：肺癌 EML4-ALK融合蛋白 人 分子靶向治疗 

分 类 号：R734.2[医药卫生—肿瘤]