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Comprehensive allelotype and genetic anaysis of 466 human nervous system tumors.

机译:466种人类神经系统肿瘤的综合等位基因和遗传分析。

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摘要

Brain tumors pose a particular challenge to molecular oncology. Many different tumor entities develop in the nervous system and some of them appear to follow distinct pathogenic routes. Molecular genetic alterations have increasingly been reported in nervous system neoplasms. However, a considerable number of affected genes remain to be identified. We present here a comprehensive allelotype analysis of 466 nervous system tumors based on loss of heterozygosity (LOH) studies with 129 microsatellite markers that span the genome. Specific alterations of the EGFR, CDK4, CDKN2A, TP53, DMBT1, NF2, and PTEN genes were analyzed in addition. Our data point to several novel genetic loci associated with brain tumor development, demonstrate relationships between molecular changes and histopathological features, and further expand the concept of molecular tumor variants in neuro-oncology. This catalogue may provide a valuable framework for future studies to delineate molecular pathways in many types of human central nervous system tumors.
机译:脑肿瘤对分子肿瘤学提出了特殊的挑战。神经系统中发展出许多不同的肿瘤实体,其中一些似乎遵循不同的致病途径。在神经系统肿瘤中越来越多地报道了分子遗传学改变。但是,仍有许多受影响的基因尚待鉴定。我们在此基于466个神经系统肿瘤的全面等位基因型分析,基于杂合性丧失(LOH)研究以及129个微卫星标记跨越基因组。此外,还分析了EGFR,CDK4,CDKN2A,TP53,DMBT1,NF2和PTEN基因的特异性改变。我们的数据指向与脑肿瘤发展相关的几个新的遗传基因座,证明了分子变化与组织病理学特征之间的关系,并进一步扩展了神经肿瘤学中分子肿瘤变体的概念。该目录可能为将来的研究提供有价值的框架,以描述许多类型的人类中枢神经系统肿瘤中的分子途径。

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