论文部分内容阅读
肝细胞癌是一种常见的恶性肿瘤,TP53突变在其发病机制中有重要作用。在我国大陆地区,约有50%HCC患者携带TP53突变,最常见的是黄曲霉毒素导致的R249S突变。MDM2和p14ARF是TP53通路的两个重要调节因子,近来研究显示MDM2扩增和p14ARF纯合性缺失/启动子甲基化也参与了HCC的发生发展过程。目前,有越来越多关于TP53通路改变在HCC早期诊断、预后和治疗中应用的研究,但还需要更多的研究证实。本文重点介绍了TP53通路分子遗传学改变(包括TP53突变、MDM2扩增和p14ARF纯合性缺失/启动子甲基化)与肝细胞癌发生的关系。
Hepatocellular carcinoma is a common malignant tumor and TP53 mutation plays an important role in its pathogenesis. In mainland China, about 50% of HCC patients carry TP53 mutations, the most common is the aflatoxin-induced R249S mutation. MDM2 and p14ARF are two important regulators of the TP53 pathway. Recent studies have shown that MDM2 amplification and p14ARF homozygosity deletion / promoter methylation are also involved in the development and progression of HCC. At present, there are more and more studies on the application of TP53 pathway changes in the early diagnosis, prognosis and treatment of HCC. However, more studies are needed to confirm this. This article highlights the molecular genetic changes of TP53 (including TP53 mutation, MDM2 amplification and p14ARF homozygosity deletion / promoter methylation) and the relationship between the occurrence of hepatocellular carcinoma.