原发性肝癌中NF2基因突变的筛选与分析  

Mutation screening of NF2 gene in primary liver cancer

作　　者：张宁[1] 赵璋[1] 何肖敏[1] 张蓓[1] 黄坚[1] 

机构地区：[1]首都医科大学附属北京友谊医院肝病中心,肝硬化转化医学北京市重点实验室,北京100050

出　　处：《肝脏》2014年第4期257-260,共4页Chinese Hepatology

基　　金：王宝恩肝纤维化基金资助项目(20100013);教育部留学回国人员科研启动基金资助项目(2011年第41批)

摘　　要：目的探讨NF2基因突变与原发性肝癌发生的相关性。方法收集原发性肝癌组织标本144份,其中肝细胞癌106份,肝内胆管细胞癌38份。采用高分辨率单链构象多态性分析结合直接测序的方法筛选肿瘤组织中NF2基因的突变,并与临床参数进行相关性分析。结果 144例原发性肝癌中,共有6例(4.2%)发生了NF2基因突变,其中2例(1.9%)为肝细胞癌、4例(10.5%)为肝内胆管细胞癌。结论 NF2基因突变可能与原发性肝癌,尤其是肝内胆管细胞癌的发生相关。Objective To investigate the clinical relationship between NF2 gene mutation and primary liver cancer.Methods One hundred and forty-four primary liver cancer tissue specimens （including 1 06 hepatocellular carcinoma and 38 intrahepatic cholangiocarcinoma）were analyzed for NF2 mutation in the entire coding region by single-strand conformation polymorphism assay （SSCP）combined with sequencing. Correlation analysis between the results and the clinical parameters were also performed.Results NF2 mutations were identified in seven （4.9% ）primary liver cancer tissue specimens,including 2 hepatocellular carcinoma （2/106;1.9% ）and 5 intrahepatic cholangiocarcinoma （5/38;13.2% ）,which were significantly higher than that in general population.Conclusion NF2 gene mutation may play a role in the development of primary liver cancer,especially in intrahepatic cholangiocarcinoma.

关 键 词：原发性肝癌 NF2 高分辨率SSCP分析 突变 

分 类 号：R735.7[医药卫生—肿瘤]