Table 1.
Genetic abnormalities and the major signaling pathways involved in the pathogenesis of GBM
| Genetic abnormalities | Frequency (%) | Major altered signaling pathways |
|---|---|---|
| Secondary GBM | ||
| IDH mutation | 60–80[23,31] | Metabolism |
| ATRX mutation or loss | 57[58] | Genome integrity |
| TP53 mutation | 65[15] | p53 pathway |
| RB1 loss | 43[59] | Rb pathway |
| CDKN2A loss | 19[15] | Rb pathway |
| PTEN loss | 4[15] | PI3K signaling |
| PTPRZ1-MET fusion | 15[60] | RTK signaling |
| Primary GBM | ||
| TERT promoter mutation | 60–80[16,30] | Telomere maintenance |
| NF1 loss | 10–18[9,27] | MAPK signaling |
| PTEN loss | 36–41[9,27] | PI3K signaling |
| PI3K mutation | 15–25[9,27] | PI3K signaling |
| TP53 mutation | 28–35[9,27] | p53 pathway |
| EGFR vIII | 25–50[61] | RTK signaling |
| EGFR ampl. | 36–60[15] | RTK signaling |
| PDGFRA ampl. | 10–13[9,27] | RTK signaling |
| RB1 loss | 14[59] | Rb pathway |
| CDKN2A loss | 31–78[15] | Rb pathway |
| FGFR3-TACC3 fusion | 3[56,62] | RTK signaling |
IDH: Isocitrate dehydrogenase; CDKN2A: Cyclin-dependent kinase inhibitor 2A; PTEN: Phosphatase and tensin homolog; NF1: Neurofibromatosis 1; RB1: Retinoblastoma 1; TERT: Telomerase reverse transcriptase; ampl.: Amplification; EGFR: Epidermal growth factor receptor; PDGFRA: Platelet-derived growth factor receptor alpha; FGFR3: Fibroblast growth factor receptor 3; TACC3: Transforming acidic coiled-coil 3; RTK: Receptor tyrosine kinase; GBM: Glioblastoma; MAPK: Mitogen-activated protein kinase.