Volkmann M, Hofmann W J, Müller M, Räth U, Otto G, Zentgraf H, Galle P R
Deutsches Krebsforschungszentrum-Angewandte Tumorvirologie, Heidelberg, Germany.
Oncogene. 1994 Jan;9(1):195-204.
Mutations in the p53 tumour suppressor gene have been recently described in hepatocellular carcinomas (HCC) from high risk areas such as China and South Africa. Our study was designed to assess the importance of p53 aberrations in HCCs from Europe, where the major risk factors in hepatocarcinogenesis, aflatoxin exposure and chronic hepatitis B virus (HBV) infection, do not play a dominant role. We investigated 22 HCCs and, as controls, their corresponding tumour-free liver tissues, seven livers with primary biliary cirrhosis and four morphologically normal livers. p53 overexpression, which is usually associated with point mutations of the p53 gene, was detected in 10 of the 22 HCCs by immunoblotting and immunohistochemistry. p53 expression was restricted to the nucleus in the positive cells, while all cells in the control tissues were negative. There was no obvious etiological preference in the p53 positive tumours. Particularly, underlying chronic HBV infection did not appear to be associated with an increased rate of p53 overexpression in European HCCs. SSCP and sequence analysis of exons 5-8 of the p53 gene revealed point mutations in six out of eight tumours with increased steady state levels of p53. In conclusion, our study demonstrates increased p53 levels due to point mutations in a significant proportion of European HCCs. The codon 249 mutation, which was detected in one of the cases, is not predominant in these tumours.
最近在中国和南非等高风险地区的肝细胞癌(HCC)中发现了p53肿瘤抑制基因突变。我们的研究旨在评估p53畸变在欧洲HCC中的重要性,在欧洲,肝癌发生的主要风险因素黄曲霉毒素暴露和慢性乙型肝炎病毒(HBV)感染并不起主导作用。我们研究了22例HCC,并作为对照研究了其相应的无肿瘤肝组织、7例原发性胆汁性肝硬化肝脏和4例形态学正常的肝脏。通过免疫印迹和免疫组织化学在22例HCC中的10例中检测到p53过表达,这通常与p53基因的点突变有关。p53表达在阳性细胞中局限于细胞核,而对照组织中的所有细胞均为阴性。p53阳性肿瘤没有明显的病因偏好。特别是,潜在的慢性HBV感染似乎与欧洲HCC中p53过表达率的增加无关。p53基因第5至8外显子的SSCP和序列分析显示,在8例p53稳态水平升高的肿瘤中有6例存在点突变。总之,我们的研究表明,在相当一部分欧洲HCC中,由于点突变导致p53水平升高。在其中1例病例中检测到的密码子249突变在这些肿瘤中并不占主导地位。