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伴有异柠檬酸脱氢酶 1 和肿瘤蛋白 53 突变的脑胶质瘤的基因组和转录组特征的综合分析。

Integrated analysis of the genomic and transcriptional profile of gliomas with isocitrate dehydrogenase-1 and tumor protein 53 mutations.

机构信息

Central Laboratory, 560852Shenzhen Samii Medical Center, Shenzhen, P.R. China.

Department of Neurosurgery, 560852Shenzhen Samii Medical Center, Shenzhen, P.R. China.

出版信息

Int J Immunopathol Pharmacol. 2022 Jan-Dec;36:3946320221139262. doi: 10.1177/03946320221139262.

Abstract

The gene mutation of isocitrate dehydrogenase-1 (IDH1) is commonly found in LGG and some GBM patients and usually carries tumor protein 53 (TP53) mutations. However, the underlying mechanisms on both mutations of glioma patients in IDH1 and TP53 are still unclear. To find the potential target markers in GBM and LGG patients with IDH1 and TP53 mutation. A total of 1122 glioma patients from The Cancer Genome Atlas were enrolled and divided as wild-type (without IDH1 and TP53 mutations) or both mutant (both IDH1 and TP53 mutations). The data of clinicopathological characteristics, mRNA, mutations, and copy number alteration were analyzed. IDH1 and TP53 mutations, not gene expression, affect the survival probability of GBM and LGG patients, which might be related to neuron function, immune function, tumor invasion, and metastasis. The effects of the selected gene (EMILIN3, SAA1, VSTM2A, HAMP, IFT80, and CHIC2) on glioma patients could be regulated by IDH1 and TP53 mutations and had a higher survival possibility in these patients. The selected genes in GBM and LGG patients with IDH1 and TP53 mutations could be a potential prognosis marker in the future.

摘要

异柠檬酸脱氢酶 1(IDH1)基因突变常见于 LGG 和一些 GBM 患者,通常伴有肿瘤蛋白 53(TP53)突变。然而,IDH1 和 TP53 突变的胶质瘤患者这两种突变的潜在机制仍不清楚。为了寻找 IDH1 和 TP53 突变的 GBM 和 LGG 患者中的潜在靶标标志物,共纳入了来自癌症基因组图谱的 1122 名胶质瘤患者,并分为野生型(无 IDH1 和 TP53 突变)或双突变型(IDH1 和 TP53 均突变)。分析了临床病理特征、mRNA、突变和拷贝数改变的数据。IDH1 和 TP53 突变,而不是基因表达,影响 GBM 和 LGG 患者的生存概率,这可能与神经元功能、免疫功能、肿瘤侵袭和转移有关。所选基因(EMILIN3、SAA1、VSTM2A、HAMP、IFT80 和 CHIC2)对 IDH1 和 TP53 突变的胶质瘤患者的影响可受 IDH1 和 TP53 突变的调节,这些患者的生存可能性更高。IDH1 和 TP53 突变的 GBM 和 LGG 患者中选择的基因可能是未来潜在的预后标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f91c/9669701/3cd8b3193ce4/10.1177_03946320221139262-fig1.jpg

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