E-ISSN: 1019-5157 ISSN: 2651-5024
Research

Analysis of Genomes and Transcriptomes of glioma Identifies Mutations and Gene Expression Changes in the Transforming Growth Factor beta Pathway

Luo Xiaodong , Zhang Bo , Yang Qiang , Yang Hu , Dong Jinqian , Dong Zhiqiang , Li Qiang
Article in Press

Abstract

Aim
Glioblastoma (GBM) is the most aggressive malignant brain tumor in adults, with poor prognosis despite current standard treatments. While immune checkpoint inhibitors (ICIs) such as PD-1 blockade have shown promise in several cancers, their efficacy in GBM remains limited, with a response rate of approximately 20%. Transforming growth factor β (TGF-β) is known to contribute to glioma progression and immune suppression, yet its precise role in GBM remains unclear.

Material and Methods
We conducted hierarchical clustering based on TGF-β pathway gene expression in 922 GBM samples, stratifying them into TGF-β-activated and TGF-β-inactivated subgroups. We analyzed differences in survival outcomes, immune cell infiltration, signaling pathway enrichment, mutation profiles, and predicted drug sensitivities between the two subgroups.

Results
The TGF-β-inactivated subgroup exhibited significantly better survival than the activated subgroup. The activated subgroup was enriched in immunosuppressive cell types—including M0/M2 macrophages, mast cells, neutrophils, and dendritic cells—and showed high activity in the JAK-STAT, TP53, and toll-like receptor pathways. In contrast, the inactivated subgroup had elevated CD8+ T cells and a higher TP53 mutation rate, suggesting a more immunologically active environment. Drug response analysis revealed that Roscovitine, Dasatinib, Paclitaxel, PD-0325901, Bryostatin-1, BMS-536924, AZD7762, and A-770041 may be more effective in this subgroup.

Conclusion
The activation state of the TGF-β signaling pathway is closely associated with prognosis, immune landscape, and drug sensitivity in glioblastoma. These findings provide insights into the immunological role of TGF-β in GBM and may support the development of personalized treatment strategies targeting TGF-β-associated pathways.

Keywords

Transforming Growth Factor beta prognosis mutation Glioblastoma