Nakamura M, Watanabe T, Klangby U, Asker C, Wiman K, Yonekawa Y, Kleihues P, Ohgaki H
International Agency for Research on Cancer, Lyon, France.
Brain Pathol. 2001 Apr;11(2):159-68. doi: 10.1111/j.1750-3639.2001.tb00388.x.
The CDKN2A locus on chromosome 9p21 contains the p14ARF and p16INK4a genes, and is frequently deleted in human neoplasms, including brain tumors. In this study, we screened 34 primary (de novo) glioblastomas and 16 secondary glioblastomas that had progressed from low-grade diffuse astrocytomas for alterations of the p14ARF and p16INK4a genes, including homozygous deletion by differential PCR, promoter hypermethylation by methylation-specific PCR, and protein expression by immunohistochemistry. A total of 29 glioblastomas (58%) had a p14ARF homozygous deletion or methylation, and 17 (34%) showed p16INK4a homozygous deletion or methylation. Thirteen glioblastomas showed both p14ARF and p16INK4a homozygous deletion, while nine showed only a p14ARF deletion. Immunohistochemistry revealed loss of p14ARF expression in the majority of glioblastomas (38/50, 76%), and this correlated with the gene status, i.e. homozygous deletion or promoter hypermethylation. There was no significant difference in the overall frequency of p14ARF and p16INK4a alterations between primary and secondary glioblastomas. The analysis of multiple biopsies from the same patients revealed hypermethylation of p14ARF (5/15 cases) and p16INK4a (1/15 cases) already at the stage of low-grade diffuse astrocytoma but consistent absence of homozygous deletions. These results suggest that aberrant p14ARF expression due to homozygous deletion or promoter hypermethylation is associated with the evolution of both primary and secondary glioblastomas, and that p14ARF promoter methylation is an early event in subset of astrocytomas that undergo malignant progression to secondary glioblastoma.
位于9号染色体p21区域的CDKN2A基因座包含p14ARF和p16INK4a基因,在包括脑肿瘤在内的人类肿瘤中经常发生缺失。在本研究中,我们筛查了34例原发性(新发)胶质母细胞瘤和16例由低级别弥漫性星形细胞瘤进展而来的继发性胶质母细胞瘤,检测p14ARF和p16INK4a基因的改变,包括通过差异PCR检测纯合缺失、通过甲基化特异性PCR检测启动子高甲基化以及通过免疫组织化学检测蛋白表达。共有29例胶质母细胞瘤(58%)存在p14ARF纯合缺失或甲基化,17例(34%)显示p16INK4a纯合缺失或甲基化。13例胶质母细胞瘤同时显示p14ARF和p16INK4a纯合缺失,9例仅显示p14ARF缺失。免疫组织化学显示大多数胶质母细胞瘤(38/50,76%)中p14ARF表达缺失,这与基因状态相关,即纯合缺失或启动子高甲基化。原发性和继发性胶质母细胞瘤之间p14ARF和p16INK4a改变的总体频率没有显著差异。对同一患者的多次活检分析显示,在低级别弥漫性星形细胞瘤阶段就已经存在p14ARF(5/15例)和p16INK4a(1/15例)的高甲基化,但始终没有纯合缺失。这些结果表明,由于纯合缺失或启动子高甲基化导致的p14ARF异常表达与原发性和继发性胶质母细胞瘤的发生发展均相关,并且p14ARF启动子甲基化是星形细胞瘤亚组中向继发性胶质母细胞瘤发生恶性进展的早期事件。