Li Jinwei, Long Shengrong, Yang Zhang, Wei Wei, Yu Shuangqi, Liu Quan, Hui Xuhui, Li Xiang, Wang Yinyan
Department of Neurosurgery Beijing Tiantan Hospital Capital Medical University Beijing China.
Beijing Neurosurgical Institute Capital Medical University Beijing China.
MedComm (2020). 2024 Nov 3;5(11):e754. doi: 10.1002/mco2.754. eCollection 2024 Nov.
Mutations in isocitrate dehydrogenase (IDH) are important markers of glioma prognosis. However, few studies have examined the gene expression regulatory network (GRN) in IDH-mutant and wild-type gliomas. In this study, single-cell RNA sequencing and spatial transcriptome sequencing were used to analyze the GRN of cell subsets in patients with IDH-mutant and wild-type gliomas. Through gene transcriptional regulation analysis, we identified the M4 module, whose transcription factor activity is highly expressed in IDH wild-type gliomas compared to IDH-mutants. Enrichment analysis revealed that these genes were predominantly expressed in microglia and macrophages, with significant enrichment in interferon-related signaling pathways. Interferon regulatory factor 7 (IRF7), a transcription factor within this pathway, showed the highest percentage of enrichment and was primarily localized in the core region of wild-type IDH tumors. A machine-learning prognostic model identified novel subgroups within the wild-type IDH population. Additionally, IRF7 was shown to promote the proliferation and migration of T98G and U251 cells in vitro, and its knockdown affected glioma cell proliferation in vivo. This study systematically established the regulatory mechanism of IDH transcriptional activity in gliomas at the single-cell level and drew a corresponding cell map. The study presents a transcriptional regulatory activity map for IDH wild-type gliomas, involving single-cell RNA sequencing and spatial transcriptomics to identify gene regulatory networks, machine learning models for IDH subtyping, and experimental validation, highlighting the role of IRF7 in glioma progression.
异柠檬酸脱氢酶(IDH)突变是胶质瘤预后的重要标志物。然而,很少有研究探讨IDH突变型和野生型胶质瘤中的基因表达调控网络(GRN)。在本研究中,采用单细胞RNA测序和空间转录组测序分析IDH突变型和野生型胶质瘤患者细胞亚群的GRN。通过基因转录调控分析,我们鉴定出M4模块,与IDH突变型相比,其转录因子活性在IDH野生型胶质瘤中高表达。富集分析显示,这些基因主要在小胶质细胞和巨噬细胞中表达,在干扰素相关信号通路中显著富集。该信号通路中的转录因子干扰素调节因子7(IRF7)富集百分比最高,主要定位于野生型IDH肿瘤的核心区域。一个机器学习预后模型在野生型IDH人群中鉴定出了新的亚组。此外,IRF7在体外可促进T98G和U251细胞的增殖和迁移,其敲低影响体内胶质瘤细胞的增殖。本研究在单细胞水平系统地建立了胶质瘤中IDH转录活性的调控机制,并绘制了相应的细胞图谱。该研究展示了IDH野生型胶质瘤的转录调控活性图谱,涉及单细胞RNA测序和空间转录组学以鉴定基因调控网络、用于IDH亚型分型的机器学习模型以及实验验证,突出了IRF7在胶质瘤进展中的作用。