Department of Neurology, University Hospital Zurich, Zurich, Switzerland.
Lancet Oncol. 2013 Aug;14(9):e370-9. doi: 10.1016/S1470-2045(13)70168-2.
Primary brain tumours are heterogeneous in histology, genetics, and outcome. Although WHO's classification of tumours of the CNS has greatly helped to standardise diagnostic criteria worldwide, it does not consider the substantial progress that has been made in the molecular classification of many brain tumours. Recent practice-changing clinical trials have defined a role for routine assessment of MGMT promoter methylation in glioblastomas in elderly people, and 1p and 19q codeletions in anaplastic oligodendroglial tumours. Moreover, large-scale molecular profiling approaches have identified new mutations in gliomas, affecting IDH1, IDH2, H3F3, ATRX, and CIC, which has allowed subclassification of gliomas into distinct molecular subgroups with characteristic features of age, localisation, and outcome. However, these molecular approaches cannot yet predict patients' benefit from therapeutic interventions. Similarly, transcriptome-based classification of medulloblastoma has delineated four variants that might now be candidate diseases in which to explore novel targeted agents.
原发性脑肿瘤在组织学、遗传学和预后方面存在异质性。虽然世界卫生组织(WHO)的中枢神经系统肿瘤分类极大地帮助了全球诊断标准的标准化,但它并没有考虑到许多脑肿瘤的分子分类方面已经取得的重大进展。最近改变临床实践的临床试验已经确定了在老年人胶质母细胞瘤中常规评估 MGMT 启动子甲基化的作用,以及在间变性少突胶质细胞瘤中 1p 和 19q 缺失的作用。此外,大规模的分子分析方法已经在神经胶质瘤中发现了新的突变,影响 IDH1、IDH2、H3F3、ATRX 和 CIC,这使得神经胶质瘤可以分为具有特定年龄、定位和预后特征的不同分子亚群。然而,这些分子方法目前还不能预测患者从治疗干预中获益的情况。同样,基于转录组的髓母细胞瘤分类已经确定了四个变体,这些变体现在可能是候选疾病,可以探索新的靶向药物。