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肝细胞癌相关基因CTNNB1的3号外显子突变研究
徐艳,谭维维,胡迅,杨宗泽,樊萍,张姝,席佳蕾,王亚曦
0
(四川大学华西医院生物样本库)
摘要:
【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。
关键词:  肝细胞癌  CTNNB1基因  3号外显子  突变
DOI:
基金项目:国家重点研发计划资助项目
Analysis of mutations in exon 3 of CTNNB1 gene in patients with hepatocellular carcinoma
XU Yan,TAN Weiwei,HU Xun,YANG Zongze,FAN Ping,ZHANG Shu,XI Jialei,WANG Yaxi
(Biobank, West China Hospital, Sichuan University)
Abstract:
【Abstract】 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 characterize βcatenin expression in the paired tissue samples if mutations were detected.furthermore, 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 of β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.
Key words:  Hepatocellular carcinoma  CTNNB1 gene  Exon 3  Mutation

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