Malzkorn B, Reifenberger G
Institut für Neuropathologie, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
Pathologe. 2019 Mar;40(2):131-139. doi: 10.1007/s00292-019-0575-6.
Diffuse astrocytic and oligodendroglial gliomas are the most common neuroepithelial tumors. Their classification is based on the integration of histological and molecular findings according to the classification of tumors of the central nervous system published by the World Health Organization (WHO) in 2016.
This review describes the different entities and variants of diffuse gliomas and summarizes the current diagnostic criteria for these tumors.
Based on the 2016 WHO classification and selected other publications, the histomolecular diagnostics of diffuse gliomas is presented and illustrated.
Diffuse gliomas are divided into isocitrate dehydrogenase (IDH)-mutant or IDH-wildtype gliomas by detection of mutations in the IDH1 or IDH2 genes. Among the IDH-mutant gliomas, oligodendroglial tumors are characterized by combined losses of chromosome arms 1p and 19q. Loss of nuclear expression of the ATRX protein is a marker of IDH- mutant astrocytic gliomas. Glioblastoma, IDH-wildtype, is the most common diffuse glioma. Diffuse and anaplastic astrocytic gliomas without IDH mutation should be further evaluated for molecular features of glioblastoma, IDH-wildtype. Diffuse gliomas in the thalamus, brainstem, or spinal cord carrying a histone 3 (H3)-K27M mutation are classified as diffuse midline gliomas, H3-K27M-mutant. By determining the IDH and 1p/19q status, oligoastrocytomas can be stratified into either astrocytic or oligodendroglial gliomas. Gliomatosis cerebri is no longer regarded as a distinct glioma entity.
Diffuse gliomas can today be classified accurately and reproducibly by means of histological, immunohistochemical, and molecular analyses.
弥漫性星形细胞和少突胶质细胞胶质瘤是最常见的神经上皮肿瘤。它们的分类基于2016年世界卫生组织(WHO)发布的中枢神经系统肿瘤分类中组织学和分子学结果的整合。
本综述描述了弥漫性胶质瘤的不同实体和变体,并总结了这些肿瘤当前的诊断标准。
基于2016年WHO分类及其他选定的出版物,介绍并举例说明了弥漫性胶质瘤的组织分子诊断。
通过检测异柠檬酸脱氢酶(IDH)1或IDH2基因的突变,弥漫性胶质瘤可分为IDH突变型或IDH野生型胶质瘤。在IDH突变型胶质瘤中,少突胶质细胞瘤的特征是染色体臂1p和19q联合缺失。ATRX蛋白核表达缺失是IDH突变型星形细胞胶质瘤的一个标志物。IDH野生型胶质母细胞瘤是最常见的弥漫性胶质瘤。无IDH突变的弥漫性和间变性星形细胞胶质瘤应进一步评估IDH野生型胶质母细胞瘤的分子特征。丘脑、脑干或脊髓中携带组蛋白3(H3)-K27M突变的弥漫性胶质瘤被分类为弥漫性中线胶质瘤,H3-K27M突变型。通过确定IDH和1p/19q状态,少突星形细胞瘤可分层为星形细胞或少突胶质细胞胶质瘤。大脑胶质瘤病不再被视为一种独特的胶质瘤实体。
如今,通过组织学、免疫组织化学和分子分析,可以准确且可重复地对弥漫性胶质瘤进行分类。