Figarella-Branger Dominique, Appay Romain, Metais Alice, Tauziède-Espariat Arnault, Colin Carole, Rousseau Audrey, Varlet Pascale
Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France; APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.
Aix-Marseille Univ, CNRS, INP, Inst Neurophysiopathol, Marseille, France; APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.
Ann Pathol. 2022 Oct;42(5):367-382. doi: 10.1016/j.annpat.2021.11.005. Epub 2021 Dec 2.
Rapid technical advances in molecular biology allowed for the identification of key genetic alterations in central nervous system (CNS) tumors. Our ever-expanding knowledge of brain tumor genetics and the development of new technologies, such as DNA-methylation profiling, required an update of the 2016 fourth edition of the WHO classification of CNS tumors. Updates were regularly published by the Consortium to Inform Molecular Practical Approaches to CNS Tumor Taxonomy-Not Official WHO (c-IMPACT-NOW) until the publication of the fifth edition of the WHO classification of CNS tumors in 2021. In that edition, new types and subtypes are introduced and criteria for histo-molecular diagnostic and grading are refined, especially for diffuse gliomas. The definition of a broad category "diffuse glioma, pediatric subtype" (low or high grade) is a major improvement of the classification. Moreover, the nomenclature was simplified and aligned with that of other blue books. The 2021 edition truly advances the role of molecular diagnostics in CNS tumor classification. Methyloma profiling may become a cornerstone of CNS tumor diagnostic. The new WHO classification will lead to better management of brain tumor patients.
分子生物学领域的快速技术进步使得能够识别中枢神经系统(CNS)肿瘤中的关键基因改变。我们对脑肿瘤遗传学的认识不断扩展,以及诸如DNA甲基化谱分析等新技术的发展,使得2016年第四版《世界卫生组织中枢神经系统肿瘤分类》需要更新。在2021年《世界卫生组织中枢神经系统肿瘤分类》第五版出版之前,由中枢神经系统肿瘤分类分子实用方法信息联盟(非世界卫生组织官方机构,即c-IMPACT-NOW)定期发布更新内容。在该版本中,引入了新的类型和亚型,并完善了组织分子诊断和分级标准,尤其是针对弥漫性胶质瘤。“弥漫性胶质瘤,儿童亚型”(低级别或高级别)这一广泛类别的定义是分类的一项重大改进。此外,术语得到简化并与其他蓝皮书保持一致。2021年版真正推动了分子诊断在中枢神经系统肿瘤分类中的作用。甲基化谱分析可能成为中枢神经系统肿瘤诊断的基石。新的世界卫生组织分类将带来对脑肿瘤患者更好的管理。