Department of Neurology, Erasmus University Medical Center, Erasmus University Rotterdam, Dr Molewaterplein 50, 3000 CA, Rotterdam, the Netherlands.
Cancers (Basel). 2011 Mar 7;3(1):1129-40. doi: 10.3390/cancers3011129.
Gliomas are the most common type of primary brain tumor and have a dismal prognosis. Understanding the genetic alterations that drive glioma formation and progression may help improve patient prognosis by identification of novel treatment targets. Recently, two major studies have performed in-depth mutation analysis of glioblastomas (the most common and aggressive subtype of glioma). This systematic approach revealed three major pathways that are affected in glioblastomas: The receptor tyrosine kinase signaling pathway, the TP53 pathway and the pRB pathway. Apart from frequent mutations in the IDH1/2 gene, much less is known about the causal genetic changes of grade II and III (anaplastic) gliomas. Exceptions include TP53 mutations and fusion genes involving the BRAF gene in astrocytic and pilocytic glioma subtypes, respectively. In this review, we provide an update on all common events involved in the initiation and/or progression across the different subtypes of glioma and provide future directions for research into the genetic changes.
神经胶质瘤是最常见的原发性脑肿瘤，预后较差。了解导致神经胶质瘤形成和进展的遗传改变，通过鉴定新的治疗靶点，可能有助于改善患者的预后。最近，两项主要的研究对胶质母细胞瘤（最常见和侵袭性最强的神经胶质瘤亚型）进行了深入的突变分析。这种系统的方法揭示了在神经胶质瘤中受影响的三个主要途径：受体酪氨酸激酶信号通路、TP53 通路和 pRB 通路。除了 IDH1/2 基因的频繁突变外，对于二级和三级（间变性）神经胶质瘤的因果遗传变化知之甚少。例外的是，TP53 突变和融合基因分别涉及星形细胞瘤和毛细胞型星形细胞瘤亚型中的 BRAF 基因。在这篇综述中，我们提供了关于不同神经胶质瘤亚型中起始和/或进展涉及的所有常见事件的最新信息，并为遗传变化的研究提供了未来的方向。
