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基于世界卫生组织(WHO)更新分类及cIMPACT-NOW提议的弥漫性胶质瘤分子诊断方法

[Molecular Diagnostic Approaches for Diffuse Gliomas Based on Updated WHO Classification and cIMPACT-NOW Proposals].

作者信息

Masui Kenta, Komori Takashi

机构信息

Division of Pathological Neuroscience, Department of Pathology, Tokyo Women's Medical University School of Medicine.

出版信息

No Shinkei Geka. 2021 May;49(3):510-519. doi: 10.11477/mf.1436204423.

Abstract

The updated 2016 World Health Organization(WHO)classification of tumors of the central nervous system(CNS)has incorporated molecular parameters into the histopathological diagnosis of the tumor in the name of "integrated diagnosis." It has enabled more prognostically precise diagnoses of brain tumor entities; however, its practical application has also raised concerns about whether genotypes predominate over phenotypes in tumor diagnostics. In response, cIMAPCT-NOW(the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy-"Not Official WHO")was established to provide a forum for evaluating and recommending proposed changes to future CNS tumor classifications. cIMPACT has thus far published seven updates on the proposal and clarification of existing and new terms and entities. Herein, we highlight the current status of clinical application of the 2016 WHO classification and cIMPACT proposals, and the future endeavor to incorporate comprehensive genomic and epigenomic profiling of CNS tumors with the aid of artificial intelligence technology for better clinical decision-making to achieve the goal of precision medicine for each patient with brain tumors.

摘要

2016年世界卫生组织(WHO)更新的中枢神经系统(CNS)肿瘤分类以“综合诊断”之名,将分子参数纳入肿瘤的组织病理学诊断中。这使得对脑肿瘤实体的诊断在预后方面更加精确;然而,其实际应用也引发了关于在肿瘤诊断中基因型是否比表型更具主导性的担忧。作为回应,cIMAPCT-NOW(中枢神经系统肿瘤分类分子与实践方法信息联盟——“非WHO官方”)成立,以提供一个论坛,用于评估和推荐对未来中枢神经系统肿瘤分类的拟议更改。cIMPACT迄今已发布了七次关于提议以及对现有和新术语及实体的澄清的更新内容。在此,我们重点介绍2016年WHO分类和cIMPACT提议的临床应用现状,以及未来借助人工智能技术纳入中枢神经系统肿瘤全面基因组和表观基因组分析以做出更好临床决策,从而实现针对每位脑肿瘤患者的精准医疗目标的努力。

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