肝细胞癌相关基因CTNNB1的3号外显子突变研究  

Analysis of mutations in exon 3 of CTNNB1 gene in patients with hepatocellular carcinoma

作　　者：徐艳[1] 谭维维[1] 胡迅[1] 杨宗泽[1] 樊萍[1] 张姝 席佳蕾 王亚曦 XU Yan;TAN Weiwei;HU Xun;YANG Zongze;FAN Ping;ZHANG Shu;XI Jialei;WANG Yaxi(Biobank,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院生物样本库,四川成都610041

出　　处：《西部医学》2018年第10期1409-1412,共4页Medical Journal of West China

基　　金：国家重点研发计划资助项目(2016YFC1201700)

摘　　要：目的探讨CTNNB1基因3号外显子突变与肝细胞癌(HCC)发生的相关性。方法收集100例HCC患者的肿瘤组织及配对远端正常组织样本200份,采用直接测序的方法筛选突变情况;免疫组化法对筛选到突变的患者检测其肿瘤及正常组织中CTNNB1基因编码蛋白(β-catenin)表达情况,并进一步分析CTNNB1基因3号外显子突变与患者临床病理特征之间的关系。结果 CTNNB1基因3号外显子错义突变3例(3%),分别引起第32、36位密码子编码氨基酸改变。免疫组化结果显示,3例突变患者的肿瘤组织中β-catenin蛋白表达明显强于配对正常组织(P<0.05)。CTNNB1基因3号外显子突变与患者临床病理特征未见显著相关性(P>0.05)。结论 CTNNB1基因3号外显子突变存在于HCC患者中,可能与HCC的发生相关。Objective To investigate the relationship between the mutations in exon 3 of CTNNB1 and hepatocellular carcinoma（HCC）.Methods Paired tumor and normal tissue samples of 100 HCC patients were collected,DNA from the tissue at region of exon 3 of CTNNB1 was amplified by PCR,the sequencing technique was applied for assessment of somatic mutation in the local,immunohistochemical assay were used to characterizeβ-catenin expression in the paired tissue samples if mutations were detected.f urthermore,the relationship between the mutations and the clinicopathological features in HCC patients was analyzed.Results 2 missense mutations（p.D32V and p.H36P）in exon 3 of CTNNB1 were detected in 3 HCC patients（3%）,in whose tumor tissues aberrant expression rate ofβ-catenin were significantly higher than that in normal tissues.No significant correlation was found between the mutations in exon 3 of CTNNB1 and clinical characteristics（P〉0.05）.Conclusion Mutations in exon 3 of CTNNB1 are infrequently mutated in HCC patients.It may play a function role in the development of HCC,further studies are needed to fully understand all the mutations and pathways of the gene.

关 键 词：肝细胞癌 CTNNB1基因 3号外显子 突变 

分 类 号：R735.7[医药卫生—肿瘤]