Roncalli Massimo, Bianchi Paolo, Bruni Barbara, Laghi Luigi, Destro Annarita, Di Gioia Sonia, Gennari Leandro, Tommasini Maurizio, Malesci Alberto, Coggi Guido
Department of Pathology and Research Laboratory, Humanitas Clinical Institute of Rozzano and University of Milan, Italy.
Hepatology. 2002 Aug;36(2):427-32. doi: 10.1053/jhep.2002.34852.
One of the main regulatory pathways reported to be altered in hepatocellular carcinoma (HCC) is that of cell cycle control involving RB1 gene-related cell inhibitors. We investigated p14(ARF), p15(INK4B), p16(INK4A), p18(INK4C), and RB1 genes in a series of HCCs and associated cirrhosis with the goal of ascertaining their pattern of inactivation by gene methylation. Thirty-three HCCs, adjacent nonneoplastic cirrhotic tissues, and 6 HCC cell lines were studied. Cirrhoses (25 of 33, 76%), HCCs (31 of 33, 94%), and 3 of 6 (50%) cell lines showed 1 or more methylated genes. Cirrhoses (17 of 33, 51%) had more frequently than HCCs (11 of 33, 33%, P =.01) only 1 methylated gene. With the exception of p18(INK4C) the genes under study showed promoter methylation with frequency ranging from 82% (p16(INK4A) in HCC) to 33% and 39% (p15(INK4B) and p16(INK4A) in cirrhoses). In cases with only 1 methylated gene, p15(INK4B) in cirrhosis (8 of 17, 47%) and p16(INK4A) in HCC (10 of 11, 91%) were the more frequently altered. An optimal correlation was found between p15 and p16 gene methylation and complete protein loss in HCC detected by immunocytochemistry, whereas a partial loss of the same proteins was a feature of methylated cirrhoses. Inactivation by DNA methylation of several genes of the RB1 pathway is common to cirrhosis and HCC. An early pattern of methylatory events (1 methylated gene) is a feature of cirrhosis rather than HCC, whereas an advanced one (> or = 3 methylated genes) is characteristic of malignancy. Early methylation changes seem to involve p15(INK4B) and p16(INK4A) in cirrhosis and p16(INK4A) in HCC. In conclusion, a stepwise progression of methylating events is a feature of the sequence cirrhosis-HCC and contributes to the process of hepatic carcinogenesis with potential clinical implications.
据报道,在肝细胞癌(HCC)中发生改变的主要调控途径之一是涉及RB1基因相关细胞抑制剂的细胞周期控制途径。我们研究了一系列肝癌及相关肝硬化组织中的p14(ARF)、p15(INK4B)、p16(INK4A)、p18(INK4C)和RB1基因,目的是确定它们通过基因甲基化的失活模式。研究了33例肝癌、相邻的非肿瘤性肝硬化组织以及6种肝癌细胞系。肝硬化组织(33例中的25例,76%)、肝癌组织(33例中的31例,94%)以及6种细胞系中的3种(50%)显示出1个或更多的甲基化基因。肝硬化组织(33例中的17例,51%)仅1个甲基化基因的情况比肝癌组织(33例中的11例,33%,P = 0.01)更常见。除p18(INK4C)外,所研究的基因显示启动子甲基化的频率范围从82%(肝癌中的p16(INK4A))到33%和39%(肝硬化中的p15(INK4B)和p16(INK4A))。在仅有1个甲基化基因的病例中,肝硬化中的p15(INK4B)(17例中的8例,47%)和肝癌中的p16(INK4A)(11例中的10例,91%)是更常发生改变的。通过免疫细胞化学检测发现,肝癌中p15和p16基因甲基化与完全蛋白缺失之间存在最佳相关性,而相同蛋白的部分缺失是甲基化肝硬化的一个特征。RB1途径的几个基因通过DNA甲基化失活在肝硬化和肝癌中都很常见。甲基化事件的早期模式(1个甲基化基因)是肝硬化而非肝癌的特征,而晚期模式(≥3个甲基化基因)是恶性肿瘤的特征。早期甲基化变化在肝硬化中似乎涉及p15(INK4B)和p16(INK4A),在肝癌中涉及p16(INK4A)。总之,甲基化事件的逐步进展是肝硬化 - 肝癌序列的一个特征,并有助于肝癌发生过程,具有潜在的临床意义。