中枢神经系统最具侵袭性且恶性程度最高的类型是胶质母细胞瘤（GBM），其特点是平均生存时间极短，不到 16 个月。这种现象的主要原因可归因于 GBM 基因组的广泛改变，其特点是与增殖、细胞生长、存活和凋亡相关的许多关键信号通路和表观遗传学调控失调。有鉴于此，关键信号通路中的不同遗传改变和各种表观遗传学调控机制与 GBM 相关，并被确定为区分标记。这种 GBM 预后改变在 PI3K/AKT、p53、RTK、RAS、RB、STAT3 和 ZIP4 信号通路、代谢通路 (IDH1/2) 以及表观遗传调控基因 (MGMT、CDKN2A-p16INK4aCDKN2B-p15INK4b) 的改变中被识别。 。探索专门针对这些途径的创新诊断和治疗方法对于增强 GBM 的未来药物治疗至关重要。这项研究全面概述了由于 GBM 中关键基因的突变、甲基化和拷贝数改变而导致的表观遗传失调机制和信号通路，并强调了它们的重要性。© 2024。作者，获得 Springer 独家许可Science Business Media, LLC，隶属于施普林格自然集团。

The mostly aggressive and extremely malignant type of central nervous system is Glioblastoma (GBM), which is characterized by an extremely short average survival time of lesser than 16 months. The primary cause of this phenomenon can be attributed to the extensively altered genome of GBM, which is characterized by the dysregulation of numerous critical signaling pathways and epigenetics regulations associated with proliferation, cellular growth, survival, and apoptosis. In light of this, different genetic alterations in critical signaling pathways and various epigenetics regulation mechanisms are associated with GBM and identified as distinguishing markers. Such GBM prognostic alterations are identified in PI3K/AKT, p53, RTK, RAS, RB, STAT3 and ZIP4 signaling pathways, metabolic pathway (IDH1/2), as well as alterations in epigenetic regulation genes (MGMT, CDKN2A-p16INK4aCDKN2B-p15INK4b). The exploration of innovative diagnostic and therapeutic approaches that specifically target these pathways is utmost importance to enhance the future medication for GBM. This study provides a comprehensive overview of dysregulated epigenetic mechanisms and signaling pathways due to mutations, methylation, and copy number alterations of in critical genes in GBM with prevalence and emphasizing their significance.© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.