Table 2 The genomic landscape of adult and pediatric high-grade gliomas
From: Pediatric high-grade astrocytomas: a distinct neuro-oncological paradigm
| Mutation/alterations | Frequency of alteration in adult patients | Frequency of alteration in pediatric patients | Type of alteration | Gene function |
|---|---|---|---|---|
| ATRX/DAXX | 7%, 26% [56, 58] | 31%, 34% [10, 56] | LOF mutations | Subunits of a chromatin remodeling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres |
| BRAF | 0% [83] | 8% [55] | Mutations/indels (V600E, A598deInsAT) | Oncogene |
| EGFR | 20%, 45%[41, 46] | 6%,26% [10, 84] | Amplifications, GOF mutations (EGFR VIII) and fusions | Receptor tyrosine kinase of the ERBB family |
| FGFR1/3 | 3.1% [85] | 6% [21] | GOF mutations and fusions (FGFR1/3 and TACC1/3) | FGF receptors are thought to have a role in the development of the nervous system |
| H3F3A | 3% [56] | 36% [10] | Mutations (K27M and G34R/V) | Replication-independent histone H3 variant |
| IDH1/2 | 26%, 5% 12% [47, 48, 56] | 10%, 16% [51, 86] | GOF recurrent mutations | Enzyme that catalyzes the oxidative decarboxylation of isocitrate and, when mutated, produces 2-hydroxyglutarate |
| NF1 | 18% [41, 46] | 27% [10] | Deletions and LOF mutations | Tumor suppressor gene |
| PIK3R1/PIK3CA | 10%, 14%, 22% [10, 41, 46] | 17% [10] | Activating mutations (PIK3CA), LOF mutations (PIK3R1) | Involved in the regulation of the PI3K pathway, PTEN, and receptor trafficking |
| SETD2 | 8% [55] | 15% [55] | LOF mutations | Histone trimethyltransferase specific to H3K36 |
| TP53 | 32%, 35% [41, 46] | 54% [10, 84] | Deletions and LOF mutations | Tumor suppressor gene |
| PTEN | 80%, 82% [43, 51] | 35% [51] | Deletions and LOF mutations, chromosome 10p loss | Tumor suppressor gene |
| CDKN2A | 52% [46] | 13% [10] | Deletions | Tumor suppressor gene |
| CDK4 | 14%, 18% [10, 46] | 0% [10] | Amplifications and GOF mutations | Serine/threonine kinase important for cell cycle progression |
| PDGFRA | 4%,12%, 13% [10, 41, 46] | 29% [51] | Amplifications and GOF mutations | Cell surface tyrosine kinase receptor for the PDGF family |