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Genomic alterations and the pathogenesis of glioblastoma.

机译:基因改变和胶质母细胞瘤的发病机理。

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While years of research have contributed to understanding the molecular mechanisms underlying initiation and progression of glioblastoma, the most common malignant brain tumor, prognosis remains dismal. Recent efforts have focused on the identification of glioblastoma-targeted genes through comprehensive genomic studies, revealing patterns of genetic alterations that include coding sequence mutations, gain or loss of genomic DNA copy number and alterations of mRNA expression signature.The genomic landscape of glioblastoma is highly heterogeneous, as genetic alterations vary highly from tumor to tumor, but common themes have been elucidated. Together, major genes altered in glioblastomas have been identified and shown to contribute to core disease pathways including receptor tyrosine kinase (RTK), Tp53 and RB signaling.
机译:尽管多年的研究有助于理解胶质母细胞瘤(最常见的恶性脑瘤)的发生和发展的分子机制,但预后仍然令人沮丧。最近的工作集中在通过全面的基因组研究鉴定胶质母细胞瘤靶向的基因,揭示了遗传改变的模式,包括编码序列突变,基因组DNA拷贝数的得失或丢失以及mRNA表达特征的改变。异质性,因为不同肿瘤之间的遗传改变差异很大,但是已经阐明了常见主题。在一起,胶质母细胞瘤中改变的主要基因已被鉴定并显示出对核心疾病途径的贡献,包括受体酪氨酸激酶(RTK),Tp53和RB信号传导。

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