Department of Pathology, Radboud University Nijmegen Medical Centre RUNMC, 6500 HB Nijmegen, The Netherlands.
Mod Pathol. 2013 Jul;26(7):922-9. doi: 10.1038/modpathol.2012.166. Epub 2013 Feb 22.
The histopathological diagnosis of diffuse gliomas often lacks the precision that is needed for tailored treatment of individual patients. Assessment of the molecular aberrations will probably allow more robust and prognostically relevant classification of these tumors. Markers that have gained a lot of interest in this respect are co-deletion of complete chromosome arms 1p and 19q, (hyper)methylation of the MGMT promoter and IDH1 mutations. The aim of this study was to assess the prognostic significance of complete 1p/19q co-deletion, MGMT promoter methylation and IDH1 mutations in patients suffering from diffuse gliomas. The presence of these molecular aberrations was investigated in a series of 561 diffuse astrocytic and oligodendroglial tumors (low grade n=110, anaplastic n=118 and glioblastoma n=333) and correlated with age at diagnosis and overall survival. Complete 1p/19q co-deletion, MGMT promoter methylation and/or IDH1 mutation generally signified a better prognosis for patients with a diffuse glioma including glioblastoma. However, in all 10 patients with a histopathological diagnosis of glioblastoma included in this study complete 1p/19q co-deletion was not associated with improved survival. Furthermore, in glioblastoma patients >50 years of age the favorable prognostic significance of IDH1 mutation and MGMT promoter methylation was absent. In conclusion, molecular diagnostics is a powerful tool to obtain prognostically relevant information for glioma patients. However, for individual patients the molecular information should be interpreted with caution and weighed in the context of parameters such as age and histopathological diagnosis.
弥漫性神经胶质瘤的组织病理学诊断往往缺乏为个体患者制定治疗方案所需的精确性。对分子异常的评估可能会使这些肿瘤的分类更加稳健和具有预后相关性。在这方面受到广泛关注的标志物是完全染色体臂 1p 和 19q 的共缺失、MGMT 启动子的（超）甲基化和 IDH1 突变。本研究旨在评估弥漫性神经胶质瘤患者中完全 1p/19q 共缺失、MGMT 启动子甲基化和 IDH1 突变的预后意义。在一系列 561 例弥漫性星形细胞瘤和少突胶质细胞瘤（低级别 n=110、间变性 n=118 和胶质母细胞瘤 n=333）中研究了这些分子异常的存在，并与诊断时的年龄和总生存期相关。完全 1p/19q 共缺失、MGMT 启动子甲基化和/或 IDH1 突变通常预示着弥漫性神经胶质瘤患者（包括胶质母细胞瘤患者）的预后较好。然而，在本研究中包括的 10 例组织学诊断为胶质母细胞瘤的患者中，完全 1p/19q 共缺失与改善的生存无关。此外，在年龄>50 岁的胶质母细胞瘤患者中，IDH1 突变和 MGMT 启动子甲基化的有利预后意义不存在。总之，分子诊断是为胶质瘤患者获得具有预后相关性的信息的有力工具。然而，对于个体患者，应谨慎解释分子信息，并在年龄和组织病理学诊断等参数的背景下进行权衡。
