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2016年世界卫生组织中枢神经系统肿瘤分类

The 2016 World Health Organization classification of tumours of the central nervous system.

作者信息

Villa Chiara, Miquel Catherine, Mosses Dominic, Bernier Michèle, Di Stefano Anna Luisa

机构信息

Foch Hospital, Department of Pathological Cytology and Anatomy, 40, rue Worth, 92151 Suresnes, France; Inserm U1016, CNRS UMR 8104, Paris Descartes University, Cochin Institute, 24, rue du faubourg Saint-Jacques, 75014 Paris, France; University of Liège, CHU de Liège, Department of Endocrinology, Sart Tilman B35, 4000 Liège, Belgium.

Saint-Louis Hospital, Department of Pathological Anatomy, 75010 Paris, France.

出版信息

Presse Med. 2018 Nov-Dec;47(11-12 Pt 2):e187-e200. doi: 10.1016/j.lpm.2018.04.015. Epub 2018 Nov 16.

DOI:10.1016/j.lpm.2018.04.015
PMID:30449638
Abstract

The 2016 WHO classification of tumours of the central nervous system represents the new paradigm among the specialists in the brain tumours and proposes a new approach combining histopathological and molecular features into diagnosis named 'integrated diagnosis'. The aim of this challenge is to overstep the interobserver variability of diagnosis based on previous classifications in order to ensure homogenous biological entities with a more accurate clinical significance. Over the last two decades, several molecular aberrations into gliomagenesis were highlighted and then confirmed as emerging biomarkers through prognostic stratification. In particular, IDH1/IDH2 genes mutations, 1p/19q codeletion and mutations in genes encoding histone H3 variants drastically changed the knowledge about diffuse gliomas inducing the WHO working group to consider the phenotype-genotype approach. In the present review, the historical development of the diagnosis of brain tumours from the 3D spatial configuration to the integration of multidisciplinary data up to recent molecular alterations is discussed. At the national level, the RENOCLIP network (supported by the National Cancer Institute) contributes to improve the standardization of histological diagnosis and the facilitation of access to molecular biology platforms for the detection of genetic aberrations necessary for integrated diagnosis. Importantly, the French POLA cohort allowed to test the clinical impact of the new criteria introduced by 2016 WHO classification of CNS tumours confirming the high accuracy in predicting clinical behaviour for diffuse gliomas.

摘要

2016年世界卫生组织中枢神经系统肿瘤分类代表了脑肿瘤领域专家的新范式,并提出了一种将组织病理学和分子特征结合到诊断中的新方法,即“综合诊断”。这一挑战的目的是克服基于以往分类的诊断观察者间差异,以确保具有更准确临床意义的同质生物学实体。在过去二十年中,胶质瘤发生过程中的几种分子异常被发现,并通过预后分层被确认为新兴生物标志物。特别是,异柠檬酸脱氢酶1/2(IDH1/IDH2)基因突变、1号染色体短臂/19号染色体长臂(1p/19q)共缺失以及编码组蛋白H3变体的基因突变极大地改变了我们对弥漫性胶质瘤的认识,促使世界卫生组织工作组考虑采用表型-基因型方法。在本综述中,我们讨论了脑肿瘤诊断从三维空间构型到多学科数据整合直至最近分子改变的历史发展。在国家层面,RENOCLIP网络(由美国国立癌症研究所支持)有助于提高组织学诊断的标准化,并促进获取分子生物学平台,以检测综合诊断所需的基因异常。重要的是,法国的POLA队列研究能够测试2016年世界卫生组织中枢神经系统肿瘤分类引入的新标准的临床影响,证实了其在预测弥漫性胶质瘤临床行为方面的高准确性。

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