Zhou Nini, Yan Jingsong, Xiong Manya, Zhu Shunqin
School of Life Sciences, Southwest University, No.2 Tiansheng Road, Beibei, Chongqing, 400716, China.
Department of System Biology, Southern University of Science and Technology, No. 1088 Xueyuan Avenue, Nanshan District, Shenzhen, 518055, China.
Sci Rep. 2025 Feb 17;15(1):5714. doi: 10.1038/s41598-024-83571-5.
Glioblastoma (GBM), a highly heterogeneous and aggressive brain tumor, presents significant clinical challenges due to its frequent recurrence and poor prognosis. In this study, we employed high-dimensional weighted gene co-expression network analysis (hd-WGCNA) and single-cell transcriptomic analysis to investigate the molecular heterogeneity of GBM. We identified functional gene modules associated with tumor cell subpopulations exhibiting highly malignant traits, particularly linked to proteasome dysregulation. Intercellular communication analysis revealed extensive interactions between malignant tumor subpopulations and tumor microenvironment (TME), highlighting critical crosstalk with tumor-associated macrophages (TAMs) and T cells. Using machine learning, we developed risk scores based on these malignant gene modules, which effectively stratify GBM patients by prognosis and treatment response, particularly in relation to immunotherapy. Furthermore, we systematically evaluated pathway enrichment, genomic variations, and drug response differences across risk groups. Finally, we validated the oncogenic role of PSMC2, a key gene in the proteasome complex, demonstrating its role in promoting GBM progression through cell proliferation, invasion, and epithelial-mesenchymal transition (EMT). Our findings provide novel insights into GBM heterogeneity, prognosis, and therapeutic strategies, suggesting PSMC2 as a potential therapeutic target.
胶质母细胞瘤(GBM)是一种高度异质性和侵袭性的脑肿瘤,由于其频繁复发和预后不良,带来了重大的临床挑战。在本研究中,我们采用高维加权基因共表达网络分析(hd-WGCNA)和单细胞转录组分析来研究GBM的分子异质性。我们鉴定了与表现出高度恶性特征的肿瘤细胞亚群相关的功能基因模块,特别是与蛋白酶体失调有关。细胞间通讯分析揭示了恶性肿瘤亚群与肿瘤微环境(TME)之间的广泛相互作用,突出了与肿瘤相关巨噬细胞(TAM)和T细胞的关键串扰。利用机器学习,我们基于这些恶性基因模块开发了风险评分,可有效根据预后和治疗反应对GBM患者进行分层,特别是在免疫治疗方面。此外,我们系统地评估了不同风险组之间的通路富集、基因组变异和药物反应差异。最后,我们验证了蛋白酶体复合物中的关键基因PSMC2的致癌作用,证明其通过细胞增殖、侵袭和上皮-间质转化(EMT)促进GBM进展的作用。我们的研究结果为GBM的异质性、预后和治疗策略提供了新的见解,表明PSMC2是一个潜在的治疗靶点。