识别癫痫瘤的驱动基因和关键通路。

IF 0.9 4区 医学 Q4 CLINICAL NEUROLOGY Turkish neurosurgery Pub Date : 2024-01-01 DOI:10.5137/1019-5149.JTN.21876-17.5
Sheng Zhong, Qi Yan, Junliang Ge, Gaojing Dou, Haiyang Xu, Gang Zhao
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引用次数: 0

摘要

目的确定脑外胶质瘤(EPN)驱动基因和关键通路,并阐明EPN患者预后与驱动基因表达水平之间的联系:材料与方法:方法:对 GSE50161、GSE66354、GSE74195 和 GSE86574 的基因表达谱进行分析,以找出 EPN 组织与正常脑样本之间的差异表达基因(DEGs)。为了获得富集功能、通路和枢纽基因,研究人员进行了基因本体(GO)、京都基因和基因组百科全书(KEGG)分析以及蛋白质相互作用(PPI)网络分析。随后,对325名患者进行了生存分析,以阐明EPN的预后与枢纽基因表达水平之间的联系:结果:通过 GO 和 KEGG 分析,发现 EPN 与正常样本之间有 20 个功能和 10 个通路存在上调或下调。互为枢纽基因的有TP53、TOP2A、CDK1、PCNA和ACTA2。在EPN组织中,Hedgehog和notch信号通路、错配修复(MMR)和逆行内大麻素被显著异常调控。生存分析显示,TOP2A、CDK1、PCNA和ACTA2低表达的EPN患者的无进展生存期(PFS)和总生存期(OS)较好(P 0.05):结论TOP2A、CDK1、PCNA和ACTA2表达较低的患者的OS和PFS较长。本研究中发现的差异表达基因和选择的关键通路为 EPN 患者的诊断和治疗提供了前所未有的、前景广阔的靶点。
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Identification of Driver Genes and Key Pathways of Ependymoma.

Aim: To identify ependymoma (EPN) driver genes and key pathways, and also to illuminate the connection between prognosis of EPN patients and expression levels of driver genes.

Material and methods: The gene expression profiles of GSE50161, GSE66354, GSE74195, and GSE86574 were analyzed to figure out the differentially expressed genes (DEGs) between tissue of EPN and normal brain samples. To harvest the enrichment functions, pathways and hub genes, the Gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis, and protein-protein interaction (PPI) network analysis were made. Subsquently, survival analysis was performed in 325 patients to illuminate the connection between prognosis of EPN and expression levels of hub genes.

Results: 20 functions and 10 pathways which were up- or downregulated between the EPN and normal samples were revealed applying GO and KEGG analysis. Mutual hub genes were TP53, TOP2A, CDK1, PCNA, and ACTA2. The pathways of Hedgehog and notch signaling, mismatch repair (MMR), and retrograde endocannabinoid were significantly abnormally regulated in EPN tissue. Survival analysis revealed favorable progression-free (PFS) and overall (OS) survival in EPN patients with low expression of TOP2A, CDK1, PCNA, and ACTA2 (p < 0.05).

Conclusion: Patients with lower expression of TOP2A, CDK1, PCNA, and ACTA2 had a longer OS and PFS. The differential expressed genes identified and the key pathways selected in this research provided unprecedented and promising targets for diagnosis and treatment of EPN patients.

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来源期刊
Turkish neurosurgery
Turkish neurosurgery 医学-临床神经学
CiteScore
1.50
自引率
12.50%
发文量
126
审稿时长
2 months
期刊介绍: Turkish Neurosurgery is a peer-reviewed, multidisciplinary, open access and totally free journal directed at an audience of neurosurgery physicians and scientists. The official language of the journal is English. The journal publishes original articles in the form of clinical and basic research. Turkish Neurosurgery will only publish studies that have institutional review board (IRB) approval and have strictly observed an acceptable follow-up period. With the exception of reference presentation, Turkish Neurosurgery requires that all manuscripts be prepared in accordance with the Uniform Requirements for Manuscripts Submitted to Biomedical Journals.
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