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综合表型-基因型方法在常见中枢神经系统肿瘤的诊断和分类中的应用。

Integrated phenotype-genotype approach in diagnosis and classification of common central nervous system tumours.

机构信息

Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

出版信息

Histopathology. 2019 Sep;75(3):299-311. doi: 10.1111/his.13849. Epub 2019 May 16.

Abstract

After nearly a century of histological classification of central nervous system tumours, the 2016 revised WHO classification has incorporated molecular features with clinical and prognostic relevance into brain tumour classification. In this review, we discuss the latest integrated phenotype-genotype approach to the most common intrinsic brain tumours in adults and children. The key genetic mutations and abnormalities, essential to the definition of these tumours, in line with the current WHO classification are described. Practical dilemmas, including 'difficult' tumours, the utility of DNA methylation classifiers and relevant recent advances post-WHO 2016 consensus are also discussed.

摘要

经过近一个世纪的中枢神经系统肿瘤组织学分类,2016 年修订的 WHO 分类将具有临床和预后相关性的分子特征纳入脑肿瘤分类。在这篇综述中,我们讨论了目前最常见的成人和儿童内在脑肿瘤的最新综合表型-基因型方法。描述了符合当前 WHO 分类的这些肿瘤定义所必需的关键基因突变和异常。还讨论了包括“困难”肿瘤在内的实际难题、DNA 甲基化分类器的实用性以及 WHO 2016 年共识后的相关最新进展。

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