Xu Zijun, Xi Bohan, Huang Jiaming, Zhang Liqiang, Cui Sifu, Wang Xianwei, Chen Dong, Li Shupeng
Dalian Medical University, Dalian, China.
Department of Neurosurgery, Affiliated Dalian Municipal Central Hospital, Dalian Medical University, Dalian, China.
IET Syst Biol. 2025 Jan-Dec;19(1):e70025. doi: 10.1049/syb2.70025.
Glioblastoma is a highly aggressive and devastating brain malignancy with dismal prognosis and extremely limited therapeutic options. Identification of prognostic biomarkers and therapeutic targets from multi-omics data is critical for improving patient outcomes. In this study, we investigated the clinical significance of cellular heterogeneity and super-enhancer-driven regulatory networks, which are critically implicated in glioblastoma progression and treatment resistance. We first performed scRNA-seq to dissect tumour microenvironment heterogeneity, identifying 16 distinct cell clusters, including astrocytes, macrophages, and CD8+ T cells. CellChat analysis revealed key intercellular signalling pathways, with astrocytes and macrophages acting as central communication hubs. To integrate bulk RNA sequencing data, we applied the Scissor algorithm to identify survival-associated cell states. By combining single-cell and bulk transcriptomic data, we uncovered 642 survival-related genes, including QKI and RBM47, which robustly predicted patient survival and immunotherapy response. Furthermore, WGCNA analysis identified seven co-expression modules and super enhancer-regulated networks orchestrated by transcription factors (RFX2, RFX4) and hub genes (NEAT1, CFLAR). These networks stratified patients into high- and low-risk groups with significant survival differences. Collectively, our findings elucidate the intricate interplay between cellular heterogeneity and super enhancer-driven gene regulation in glioblastoma, providing a translational framework for targeting oncogenic hubs and modulating microenvironment interactions.
胶质母细胞瘤是一种极具侵袭性和破坏性的脑恶性肿瘤,预后极差,治疗选择极其有限。从多组学数据中识别预后生物标志物和治疗靶点对于改善患者预后至关重要。在本研究中,我们调查了细胞异质性和超级增强子驱动的调控网络的临床意义,这些因素与胶质母细胞瘤的进展和治疗耐药性密切相关。我们首先进行了单细胞RNA测序以剖析肿瘤微环境异质性,识别出16个不同的细胞簇,包括星形胶质细胞、巨噬细胞和CD8+ T细胞。CellChat分析揭示了关键的细胞间信号通路,其中星形胶质细胞和巨噬细胞作为核心通信枢纽。为了整合批量RNA测序数据,我们应用Scissor算法识别与生存相关的细胞状态。通过结合单细胞和批量转录组数据,我们发现了642个与生存相关的基因,包括QKI和RBM47,这些基因能够有力地预测患者的生存和免疫治疗反应。此外,加权基因共表达网络分析(WGCNA)识别出七个共表达模块以及由转录因子(RFX2、RFX4)和枢纽基因(NEAT1、CFLAR)协调的超级增强子调控网络。这些网络将患者分为高风险和低风险组,两组生存差异显著。总的来说,我们的研究结果阐明了胶质母细胞瘤中细胞异质性与超级增强子驱动的基因调控之间的复杂相互作用,为靶向致癌枢纽和调节微环境相互作用提供了一个转化框架。