摘要：

中枢神经系统肿瘤是神经外科常见疾病。随着分子遗传学的发展，2016 年世界卫生组织中枢神经系统肿瘤分类第4 版修订版引入分子分型，根据组织学形态和分子遗传学特征进行修订，其中胶质瘤根据是否存在IDH 基因突变和1p/19q 共缺失重新分类；室管膜瘤根据是否存在RELA 基因融合定义新的肿瘤实体；中枢神经系统胚胎性肿瘤尤其是髓母细胞瘤增加分子分型诊断。结合肿瘤分子遗传学特点，有利于临床更好地认识肿瘤的发生与发展，并促进治疗水平的提高，但也应意识到，组织学形态仍是病理学诊断的基石。

关键词: 中枢神经系统肿瘤, 世界卫生组织, 免疫组织化学, 遗传学, 分子生物学,  , 病理学,  , 综述

Abstract:

Central nervous system tumors are common tumors encountered by neurosurgeons. With the development of molecular genetics, molecular genetic characteristics are applied to the 2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System and tumor classification was updated combined the histological and molecular genetic characteristics of tumors. According to isocitrate dehydrogenase (IDH) gene mutation and 1p/19q codeletion, new lassifications of gliomas are defined. RELA fusion?positive ependymoma is defined according to RELA gene fusion. Embryonal tumors, especially medulloblastoma increased the diagnosis of molecular typing. Combining the characteristics of tumor molecular genetics is helpful for clinicians to understand the development and progression, and
improve the treatment of tumors, but we still can not ignore the basic role of histology.

Key words: Central nervous system neoplasms, World Health Organization, Immunohistochemistry, Genetics, Molecular biology, Pathology, Review