Correlation of TP53 mutations with HCV positivity in hepatocarcinogenesis: Identification of a novel TP53 microindel in hepatocellular carcinoma with HCV infection
单位:[1]Capital Med Univ, Liver Res Ctr, Beijing Friendship Hosp, Beijing 100050, Peoples R China临床科室国家中心肝病分中心首都医科大学附属北京友谊医院[2]Chinese Acad Med Sci, Inst Basic Med Sci, Dept Pathol, Beijing 100730, Peoples R China[3]Peking Union Med Coll, Beijing 100021, Peoples R China[4]Capital Med Univ, Dept Oncol Minimally Invas Intervent Radiol, Beijing 100050, Peoples R China
Although it is known that chronic hepatitis C virus (HCV) infection may contribute to tumor initiation and development, the molecular processes causing hepatocellular carcinoma (HCC) remain unclear. Microindels are unique, infrequent mutations that result in inserted and deleted sequences at the same nucleotide position, and are important contributors to cancer. To date, microindels in the p53 tumor suppressor gene (TP53) have not been fully examined in tumors. In the present study, 116 cases of HCC were screened for mutations in the TP53 gene (exon 5-8) by single-stranded conformational polymorphism analysis followed by direct sequencing. A special type of complex TP53 mutation, 616ins14del1 (14-1 microindel), was identified in a case of HCC with HCV infection. This rare TP53 microindel led to the generation of a truncated protein of 211 amino acids that lacked the DNA-binding domain and tetramerization domain. Immunohistochemistry showed loss of p53 protein expression and downregulation of p21(WAF/CIP), Mdm2 and Bax in the tumor cells, indicating an impaired p53 signaling pathway. Nineteen of the 116 (16.4%) HCCs carried a total of 19 TP53 mutations. Notably, 5 of the 13 HCV-positive (38.5%) cases contained a TP53 mutation, and there was a significant association between TP53 mutations and HCV positivity (P=0.0379). No correlation of TP53 mutations with hepatitis B virus (HBV) positivity was observed. In summary, we identified a novel TP53 microindel in HCC, and provided evidence of HCC characterized by HCV infections typically associated with mutational inactivation of the TP53 gene.
基金:
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81071973]; Scientific Research Foundation for Returned Overseas Chinese Scholars, Bureau of Human Resources and Social Security of Beijing, ChinaScientific Research Foundation for the Returned Overseas Chinese Scholars
第一作者单位:[1]Capital Med Univ, Liver Res Ctr, Beijing Friendship Hosp, Beijing 100050, Peoples R China
通讯作者:
通讯机构:[1]Capital Med Univ, Liver Res Ctr, Beijing Friendship Hosp, Beijing 100050, Peoples R China[*1]Capital Med Univ, Liver Res Ctr, Beijing Friendship Hosp, 95 Yong An Rd, Beijing 100050, Peoples R China
推荐引用方式(GB/T 7714):
Long Jiang,Wang Yan,Li Man,et al.Correlation of TP53 mutations with HCV positivity in hepatocarcinogenesis: Identification of a novel TP53 microindel in hepatocellular carcinoma with HCV infection[J].ONCOLOGY REPORTS.2013,30(1):119-124.doi:10.3892/or.2013.2430.
APA:
Long, Jiang,Wang, Yan,Li, Man,Tong, Wei-Min,Jia, Ji-Dong&Huang, Jian.(2013).Correlation of TP53 mutations with HCV positivity in hepatocarcinogenesis: Identification of a novel TP53 microindel in hepatocellular carcinoma with HCV infection.ONCOLOGY REPORTS,30,(1)
MLA:
Long, Jiang,et al."Correlation of TP53 mutations with HCV positivity in hepatocarcinogenesis: Identification of a novel TP53 microindel in hepatocellular carcinoma with HCV infection".ONCOLOGY REPORTS 30..1(2013):119-124