Molecular genetics of ependymoma

作     者：Yuan Yao Stephen C. Mack Michael D. Taylor 

作者机构：Division of Neurosurgery Arthur and Sonia LabattBrain Tumour Research Centre Hospital for Sick Children TorontoOntario Canada Department of Laboratory Medicine and PathobiologyUniversity of Toronto Toronto Ontario Canada. 

出 版 物：《Chinese Journal of Cancer》 (CHINESE JOURNAL OF CANCER)

年 卷 期：2011年第30卷第10期

页      面：669-681页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 07[理学] 071006[理学-神经生物学] 071007[理学-遗传学] 

主　　题：分子遗传学 室管膜 肿瘤发生 发病机制 手术切除 动物模型 遗传变异 遗传特性 

摘      要：Brain tumors are the leading cause of cancer death in children,with ependymoma being the third most common and posing a significant clinical burden.Its mechanism of pathogenesis,reliable prognostic indicators,and effective treatments other than surgical resection have all remained elusive.Until recently,ependymoma research was hindered by the small number of tumors available for study,low resolution of cytogenetic techniques,and lack of cell lines and animal models.Ependymoma heterogeneity,which manifests as variations in tumor location,patient age,histological grade,and clinical behavior,together with the observation of a balanced genomic profile in up to 50% of cases,presents additional challenges in understanding the development and progression of this disease.Despite these difficulties,we have made significant headway in the past decade in identifying the genetic alterations and pathways involved in ependymoma tumorigenesis through collaborative efforts and the application of microarray-based genetic(copy number) and transcriptome profiling platforms.Genetic characterization of ependymoma unraveled distinct mRNA-defined subclasses and led to the identification of radial glial cells as its cell type of origin.This review summarizes our current knowledge in the molecular genetics of ependymoma and proposes future research directions necessary to further advance this field.