Martin Karina Chornenka, Ma Crystal, Yip Stephen
Department of Pathology & Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC V5Z 1M9, Canada.
Faculty of Medicine, University of British Columbia, Vancouver, BC V6T 2A1, Canada.
Brain Sci. 2023 May 18;13(5):817. doi: 10.3390/brainsci13050817.
Diffuse gliomas are the most common type of primary central nervous system (CNS) neoplasm to affect the adult population. The diagnosis of adult diffuse gliomas is dependent upon the integration of morphological features of the tumour with its underlying molecular alterations, and the integrative diagnosis has become of increased importance in the fifth edition of the WHO classification of CNS neoplasms (WHO CNS5). The three major diagnostic entities of adult diffuse gliomas are as follows: (1) astrocytoma, IDH-mutant; (2) oligodendroglioma, IDH-mutant and 1p/19q-codeleted; and (3) glioblastoma, IDH-wildtype. The aim of this review is to summarize the pathophysiology, pathology, molecular characteristics, and major diagnostic updates encountered in WHO CNS5 of adult diffuse gliomas. Finally, the application of implementing the necessary molecular tests for diagnostic workup of these entities in the pathology laboratory setting is discussed.
弥漫性胶质瘤是影响成人的最常见的原发性中枢神经系统（CNS）肿瘤类型。成人弥漫性胶质瘤的诊断依赖于肿瘤形态学特征与其潜在分子改变的整合，并且在世界卫生组织中枢神经系统肿瘤分类第五版（WHO CNS5）中，这种整合诊断变得越来越重要。成人弥漫性胶质瘤的三个主要诊断实体如下：（1）异柠檬酸脱氢酶（IDH）突变型星形细胞瘤；（2）IDH突变且1p/19q共缺失的少突胶质细胞瘤；（3）IDH野生型胶质母细胞瘤。本综述的目的是总结成人弥漫性胶质瘤在WHO CNS5中遇到的病理生理学、病理学、分子特征和主要诊断更新。最后，讨论了在病理实验室环境中对这些实体进行诊断检查实施必要分子检测的应用。
