Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology and Division of Neuropathology, the National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, United Kingdom.
Acta Med Acad. 2021 Apr;50(1):29-46. doi: 10.5644/ama2006-124.324.
This review focuses on adult gliomas, highlighting the most relevant biomarkers in the diagnosis of these tumours and the use of DNA methylation arrays to complement conventional molecular diagnostic techniques. The discovery and characterisation of diagnostic and prognostic biomarkers in brain tumours has significantly changed the neuropathological landscape over the last decade. These include mutations in the IDH1 and IDH2 genes in astrocytomas and oligodendrogliomas, histone H3 K27M mutations in midline gliomas, or BRAF mutations in a range of low-grade and high-grade glial and glioneuronal tumours. Other biomarkers of relevance are mutations in the TERT promoter, the ATRX gene, and genomic alterations such as 1p/19q codeletion, EGFR amplification, and chromosome 7 gain and 10 loss. The development of DNA methylation profiling and algorithmic classification of brain tumours has further enhanced the diagnostic abilities of neuropathologists. Methylation profiling is particularly useful for the diagnostic workup of biopsies with an inconclusive molecular test results, small samples, or samples with indistinctive low-grade or high-grade histology. This technology has become indispensable for the risk stratification of ependymal tumours, medulloblastomas and meningiomas. CONCLUSION: This review highlights the importance of an integrated approach to brain tumour diagnostics and gives a balanced view of the relevance and choice of conventional and molecular techniques in the workup of adult gliomas in diagnostic neuropathology practice.
这篇综述重点介绍了成人脑胶质瘤，强调了这些肿瘤诊断中最相关的生物标志物，以及 DNA 甲基化阵列在补充传统分子诊断技术方面的应用。在过去十年中，脑肿瘤中诊断和预后生物标志物的发现和特征改变了神经病理学领域。这些标志物包括星形细胞瘤和少突胶质细胞瘤中 IDH1 和 IDH2 基因的突变、中线胶质瘤中组蛋白 H3 K27M 突变、或一系列低级别和高级别神经胶质瘤和神经胶质细胞瘤中 BRAF 突变。其他相关的生物标志物包括 TERT 启动子、ATRX 基因的突变，以及基因组改变，如 1p/19q 缺失、EGFR 扩增、染色体 7 增益和 10 号缺失。DNA 甲基化谱分析和脑肿瘤算法分类的发展进一步增强了神经病理学家的诊断能力。甲基化谱分析对于具有不确定分子检测结果、小样本或具有不明显低级别或高级别组织学的活检的诊断工作特别有用。这项技术对于室管膜瘤、髓母细胞瘤和脑膜瘤的风险分层已变得不可或缺。结论：这篇综述强调了脑肿瘤诊断中综合方法的重要性，并对传统和分子技术在诊断神经病理学成人脑胶质瘤中的相关性和选择提供了平衡的观点。
