弥漫性较低级别胶质瘤的整合性分子病理分型研究进展

Research progress on integrated molecular pathological classification of diffuse lower-grade gliomas

弥漫性较低级别胶质瘤包含WHOⅡ级和Ⅲ级的星形细胞瘤、少突胶质细胞瘤和少突星形细胞瘤,其临床表现具有高度可变性,目前的组织病理学无法准确地预测其预后。近年来,胶质瘤分子病理取得了重大进展,已经发现一系列与胶质瘤临床特征和预后密切相关的分子标志物如异柠檬酸脱氢酶(isocitrate dehydrogenase,IDH)突变、染色体1p/19q共缺失、ATRX基因突变、TERT启动子突变、MGMT启动子甲基化等。在此基础上,结合这些分子标志物对弥漫性较低级别胶质瘤进行整合性分子病理分型的研究相继开展,且这些研究的结果一致表明,整合性分子病理分型能够更好地预测弥漫性较低级别胶质瘤的预后和指导治疗。本研究对弥漫性较低级别胶质瘤的整合性分子病理分型研究进展进行综述。

Diffuse lower-grade glioma is a diversified group of infiltrative brain tumors comprising WHO grades II and III astrocytomas,oligodendrogliomas, and mixed oligoastrocytomas. These tumors exhibit a wide range of clinical heterogeneity; thus, histopathological classification does not adequately predict clinical outcomes. In recent years, a number of molecular markers closely related to the clinical features and prognosis of gliomas have been discovered. These molecular markers include isocitrate dehydrogenase（IDH） mutation, chromosome 1p/19 q codeletion, ATRX mutation, TERT promoter mutation, and MGMT promoter methylation. Furthermore, numerous studies focusing on the integrated molecular classification of diffuse lower- grade gliomas combined with these molecular markers have been conducted. Results indicate that integrated molecular pathological classification can improve the diagnostic and prognostic accuracy and facilitate therapeutic formulation. This paper reviews the research progress on integrated molecular classification of diffuse lower-grade gliomas.