Brain tumours are the most common tumour-related cause of death in young people. Survivors are at risk of significant disability, at least in part related to the effects of treatment. Therefore, there is a need for a precise diagnosis that stratifies patients for the most suitable treatment, matched to the underlying biology of their tumour. Although traditional histopathology has been accurate in predicting treatment responses in many cases, molecular profiling has revealed a remarkable, previously unappreciated, level of biological complexity in the classification of these tumours. Among different molecular technologies, DNA methylation profiling has had the most pronounced impact on brain tumour classification. Furthermore, using machine learning-based algorithms, DNA methylation profiling is changing diagnostic practice. This can be regarded as an exemplar for how molecular pathology can influence diagnostic practice and illustrates some of the unanticipated benefits and risks. © 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

中文翻译：

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基于甲基化的诊断算法：来自神经肿瘤学的经验。

脑肿瘤是年轻人中最常见的肿瘤相关死因。幸存者有严重残疾的风险，至少部分与治疗效果有关。因此，需要一种精确的诊断，将患者分层以获得最合适的治疗，与他们肿瘤的潜在生物学相匹配。尽管在许多情况下，传统的组织病理学可以准确地预测治疗反应，但分子谱分析揭示了这些肿瘤分类中显着的、以前未被认识到的生物学复杂性水平。在不同的分子技术中，DNA 甲基化分析对脑肿瘤分类的影响最为显着。此外，使用基于机器学习的算法，DNA 甲基化分析正在改变诊断实践。这可以被视为分子病理学如何影响诊断实践的典范，并说明了一些意想不到的好处和风险。© 2020 大不列颠及爱尔兰病理学会。约翰威利父子公司出版