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首页> 外文期刊>Brain Tumor Pathology >Molecular characteristics of glioblastoma with 1p/19q co-deletion
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Molecular characteristics of glioblastoma with 1p/19q co-deletion

机译：1p / 19q共缺失的胶质母细胞瘤的分子特征

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Recent developments in molecular analysis have revealed genetic alterations in human gliomas. Loss of heterozygosity (LOH) is a critical molecular marker for classification of human glioma, and is useful for predicting outcome. Our previous LOH study identified a small subgroup of glioblastoma (GBM), with 1p/19q co-deletion, with a favorable clinical outcome. In this study, we investigated molecular pathological features of eight GBM with 1p/19q co-deletion compared with “classic” GBM and anaplastic oligodendroglioma (AO). We estimated EGFR gene amplification, EGFRvIII expression, CDKN2A (p16) homozygous deletion, and isocitrate dehydrogenase 1/2 (IDH1/2) gene mutations. We also conducted an analysis of the expression of proneural genes (DLL3, OLIG2, SOX2). On histopathological review, only one GBM was diagnosed as glioblastoma with oligodendroglioma component (GBMO). Loss of chromosomes 10 and 17p is common, and neither IDH1/2 mutations nor EGFRvIII expression were detected in GBM with 1p/19q co-deletion. The expression profile revealed high expression of the OLIG2 gene in this subgroup. High expression of proneural gene OLIG2 without EGFRvIII expression may be associated with a favorable clinical outcome; however, IDH1/2 gene status and the extent of LOH regions may indicate that this small subgroup of GBM is a distinct genetic subgroup from oligodendroglial tumors.
机译：分子分析的最新发展揭示了人类神经胶质瘤的遗传改变。杂合性丧失（LOH）是人类胶质瘤分类的关键分子标记，可用于预测结果。我们先前的LOH研究确定了胶质母细胞瘤（GBM）的小亚群，共缺失1p / 19q，临床效果良好。在这项研究中，我们调查了与“经典” GBM和间变性少突胶质细胞瘤（AO）相比，具有1p / 19q共缺失的8种GBM的分子病理学特征。我们估计了EGFR基因扩增，EGFRvIII表达，CDKN2A（p16）纯合缺失和异柠檬酸脱氢酶1/2（IDH1 / 2）基因突变。我们还对proneural基因（DLL3，OLIG2，SOX2）的表达进行了分析。在组织病理学检查中，只有一个GBM被诊断为具有少突胶质细胞瘤成分（GBMO）的胶质母细胞瘤。染色体10和17p的丢失很常见，在1p / 19q共缺失的GBM中未检测到IDH1 / 2突变和EGFRvIII表达。表达谱揭示了该亚组中OLIG2基因的高表达。没有EGFRvIII表达的前神经基因OLIG2的高表达可能与良好的临床预后有关。但是，IDH1 / 2基因状态和LOH区域的范围可能表明，GBM的这一小亚组是少突胶质细胞瘤的一个独特的遗传亚组。

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