神经胶质瘤的病理学和遗传学。

Q2 Medicine
Progress in neurological surgery Pub Date : 2018-01-01 Epub Date: 2018-01-25 DOI:10.1159/000466835
Takashi Komori, Yoshihiro Muragaki, Mikhail F Chernov
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引用次数: 19

摘要

目前世界卫生组织(WHO)对神经上皮肿瘤的分类是以细胞谱系为导向的,并基于假定的中枢神经系统(CNS)的发育树。它定义了胶质瘤的三大类,即星形细胞瘤、少突胶质细胞瘤和室管膜瘤,并假定了它们的4级组织病理学分级(WHO分级I至IV)。然而,肿瘤病理学对临床相关参数的影响往往可以通过遗传学来更好地预测,而不是通过病变的组织学外观。最近的研究揭示了几种不同类型肿瘤典型的主要分子改变,如弥漫性浸润性胶质瘤中的IDH1/IDH2突变,星形细胞瘤中的TP53和ATRX突变,少突胶质细胞瘤中的1p/19q共缺失,少突胶质细胞瘤和IDH野生型胶质母细胞瘤中的TERT启动子突变,以及局限性星形细胞瘤中BRAF的突变或融合,特别是在儿童中。在肿瘤中识别这些和其他几种遗传异常具有重要的临床意义,可以帮助临床医生确定适当的治疗策略并预测预后。因此,WHO更新的中枢神经系统肿瘤分类(2016)不仅考虑了神经胶质瘤的表型,还考虑了神经胶质瘤的一些遗传特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pathology and Genetics of Gliomas.

Current World Health Organization (WHO) classification of the neuroepithelial tumors is cell lineage-oriented and based on a presumed developmental tree of the central nervous system (CNS). It defines three main groups of gliomas, namely astrocytomas, oligodendrogliomas, and ependymomas, and additionally presumes their 4-tiered histopathological grading (WHO grades I to IV). Nevertheless, the impact of tumor pathology on clinically related parameters may be frequently much better predicted by genetics, than by histological appearance of the lesion. Recent studies have revealed several major molecular alterations typical for different types of neoplasms, such as IDH1/IDH2 mutations in diffusely infiltrating gliomas, mutations of TP53 and ATRX in astrocytomas, 1p/19q co-deletion in oligodendrogliomas, mutations of TERT promoter in oligodendrogliomas and IDH wild-type glioblastomas, and mutations or fusions of BRAF in circumscribed astrocytomas, particularly in children. Identification of those and several other genetic abnormalities in the tumor is clinically important and may help clinicians to determine proper treatment strategy and to predict prognosis. Therefore, the updated WHO classification of CNS tumors (2016) considers not only phenotype, but also some genetic characteristics of gliomas.

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期刊介绍: Published since 1966, this series has become universally recognized as the most significant group of books serving neurological surgeons. Volumes feature contributions from distinguished international surgeons, who brilliantly review the literature from the perspective of their own personal experience. The result is a series of works providing critical distillations of developments of central importance to the theory and practice of neurological surgery.
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