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 | 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 | 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 | GOF recurrent mutations | Enzyme that catalyzes the oxidative decarboxylation of isocitrate and, when mutated, produces 2-hydroxyglutarate | ||
NF1 | 27% [10] | Deletions and LOF mutations | Tumor suppressor gene | |
PIK3R1/PIK3CA | 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 | Deletions and LOF mutations | Tumor suppressor gene | ||
PTEN | 35% [51] | Deletions and LOF mutations, chromosome 10p loss | Tumor suppressor gene | |
CDKN2A | 52% [46] | 13% [10] | Deletions | Tumor suppressor gene |
CDK4 | 0% [10] | Amplifications and GOF mutations | Serine/threonine kinase important for cell cycle progression | |
PDGFRA | 29% [51] | Amplifications and GOF mutations | Cell surface tyrosine kinase receptor for the PDGF family |