CAJ | 학술논문

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。结论犖F2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。
목적：탐토NF2기인돌변여원발성간암발생적상관성。방법수집원발성간암조직표본144빈，기중간세포암106빈，간내담관세포암38빈。채용고분변솔단련구상다태성분석결합직접측서적방법사선종류조직중NF2기인적돌변，병여림상삼수진행상관성분석。결과144례원발성간암중，공유6례（4．2％）발생료NF2기인돌변，기중2례（1．9％）위간세포암、4례（10．5％）위간내담관세포암。결론락F2기인돌변가능여원발성간암，우기시간내담관세포암적발생상관。
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.