a Department of Neuropathology, Institute of Pathology and Neuropathology, University Hospital of Tuebingen , Eberhard Karls University of Tuebingen , Tuebingen , Germany.
b Center for CNS Tumors, Comprehensive Cancer Center Tuebingen-Stuttgart, University Hospital of Tuebingen , Eberhard Karls University of Tuebingen , Tuebingen , Germany.
Expert Rev Mol Diagn. 2017 Jan;17(1):83-94. doi: 10.1080/14737159.2017.1266259. Epub 2016 Dec 9.
Primary brain tumors account for substantial morbidity and mortality. They often infiltrate the brain diffusely, continue growing, and cause adverse events, such as headaches, seizures, and neurological deficits. The classification of primary brain tumors, based for decades on histology, has been fundamentally changed by the World Health Organization in 2016 by incorporation of molecular data. Areas covered: Literature from glioblastomas, high- and low-grade astrocytic, oligodendroglial, glioneuronal and ependymal tumors from the last five years were reviewed. Results from comprehensive molecular profiling of neoplasms and impact of recent molecular subtyping on neuropathological diagnosis are presented. Expert commentary: The identification of frequent acquired mutations shows that adult and pediatric glioblastomas have divergent biology with differing prognoses. Astrocytoma and oligodendroglioma are more closely related than previously thought. Molecular profiling now enables the precise classification of most diffuse gliomas into three clinically and therapeutically different subtypes according to the presence or absence of IDH mutation and 1p/19q codeletion. New subgroups with different clinical outcomes and anatomic locations have emerged in ependymomas and pediatric embryonal tumors.
原发性脑肿瘤发病率和死亡率都很高。它们常广泛浸润脑实质，持续生长，并导致不良事件，如头痛、癫痫发作和神经功能缺损。几十年来，原发性脑肿瘤的分类一直基于组织学，2016 年世界卫生组织（WHO）通过纳入分子数据对其进行了根本性的改变。
对过去五年间胶质母细胞瘤、高低级别星形细胞瘤、少突胶质细胞瘤、胶质神经元肿瘤和室管膜肿瘤的文献进行了回顾。本文还介绍了肿瘤综合分子分析的结果，以及最近的分子分型对神经病理诊断的影响。
频繁获得的突变的鉴定表明，成人和儿童胶质母细胞瘤具有不同的生物学特性，其预后也不同。星形细胞瘤和少突胶质细胞瘤的关系比以前认为的更密切。分子分析现在可以根据 IDH 突变和 1p/19q 缺失情况，将大多数弥漫性神经胶质瘤精确地分为三种在临床和治疗上具有显著差异的亚型。在室管膜瘤和儿童胚胎性肿瘤中出现了具有不同临床结局和解剖位置的新亚组。
