The genetic and epigenetic basis of ependymoma
The genetic and epigenetic basis of ependymoma
复制标题
DOI：
10.1007/s00381-009-0928-1
复制
发表时间：
2009-10-01
影响因子：
1.4
通讯作者：
Taylor, Michael D.
中科院分区：
文献类型：
--
作者：
Mack, Stephen C.;Taylor, Michael D.
尽管室管膜瘤是第三种常见的儿童脑肿瘤，但我们对其发生、维持或发展的遗传学/表观遗传学基础知之甚少。这在一定程度上是由于这种疾病的异质性，以及大多数研究中分析的队列样本规模较小。迄今为止发现的许多遗传异常都是大的基因组区域，使得乘客和司机基因之间的区分变得困难。在儿童后颅窝后室管膜瘤中发现平衡的核型增加了识别靶点进行合理治疗的难度。室管膜瘤的体外和体内模型系统的缺乏加剧了上述困难。在这篇综述中，我们讨论了已发表的关于室管膜瘤遗传学和表观遗传学的文献，并讨论了该领域未来可能的发展方向。
Although ependymoma is the third most common pediatric brain tumor, we know little about the genetic/epigenetic basis of its initiation, maintenance, or progression. This is due in part to the heterogeneity of the disease, as well as the small sample size of the cohorts analyzed in most studies.Many of the genetic aberrations identified to date are large genomic regions, making the differentiation between passenger and driver genes difficult. The finding of a balanced karyotype in a significant subset of pediatric posterior fossa ependymomas increases the difficulty of identifying targets for rationale therapy.The paucity of in vitro and in vivo model systems for ependymoma compound the difficulties outlined above. In this review, we discuss the published literature on ependymoma genetics and epigenetics and discuss possible future directions for the field.