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扩增是野生型和突变型高级别胶质瘤的一种现象:使用荧光原位杂交和DNA甲基化组分析的综合研究

Amplification Is a Phenomenon of Wildtype and Mutated High-Grade Glioma: An Integrated Analysis Using Fluorescence In Situ Hybridization and DNA Methylome Profiling.

作者信息

Hölzl Dorothee, Hutarew Georg, Zellinger Barbara, Alinger-Scharinger Beate, Schlicker Hans U, Schwartz Christoph, Sotlar Karl, Kraus Theo F J

机构信息

Institute of Pathology, University Hospital Salzburg, Paracelsus Medical University, Müllner Hauptstr. 48, A-5020 Salzburg, Austria.

Department of Neurosurgery, University Hospital Salzburg, Paracelsus Medical University, Ignaz-Harrer-Str. 79, A-5020 Salzburg, Austria.

出版信息

Biomedicines. 2022 Mar 29;10(4):794. doi: 10.3390/biomedicines10040794.

Abstract

Gliomas are the most common intrinsic brain tumors in adults, and in accordance with their clinical behavior and patients' outcome, they are graded by the World Health Organization (WHO) classification of brain tumors. One very interesting candidate for targeted tumor therapy may be epidermal growth factor receptor () amplification. Here, we performed an integrated comparative analysis of amplification in 34 glioma samples using standard fluorescence in situ hybridization (FISH) and Illumina EPIC Infinium Methylation Bead Chip and correlated results with molecular glioma hallmarks. We found that the EPIC analysis showed the same power of detecting amplification compared with FISH. amplification was detectable in high-grade gliomas (25%). Moreover, amplification was found to be present solely in wildtype gliomas (26%) and mutated gliomas (27%), occurring independently of MGMT promoter methylation status and being mutually exclusive with 1p/19q codeletion (LOH). In summary, EPIC Bead Chip analysis is a reliable tool for detecting amplification and is comparable with the standard method FISH. amplification is a phenomenon of wildtype mutated high-grade gliomas.

摘要

神经胶质瘤是成人中最常见的原发性脑肿瘤,根据其临床行为和患者预后,世界卫生组织(WHO)脑肿瘤分类系统对其进行分级。表皮生长因子受体( )扩增可能是靶向肿瘤治疗的一个非常有趣的候选靶点。在此,我们使用标准荧光原位杂交(FISH)和Illumina EPIC Infinium甲基化微珠芯片对34例神经胶质瘤样本中的 扩增进行了综合比较分析,并将结果与神经胶质瘤分子特征相关联。我们发现,与FISH相比,EPIC分析在检测 扩增方面具有相同的效能。在高级别神经胶质瘤中可检测到 扩增(25%)。此外,仅在 野生型神经胶质瘤(26%)和 突变型神经胶质瘤(27%)中发现 扩增,其发生与MGMT启动子甲基化状态无关,且与1p/19q共缺失(杂合性缺失)相互排斥。总之,EPIC微珠芯片分析是检测 扩增的可靠工具,与标准方法FISH相当。 扩增是 野生型和 突变型高级别神经胶质瘤的一种现象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5160/9033057/36916c649f06/biomedicines-10-00794-g001.jpg

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