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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
  1. FGF, fibroblast growth factor; GOF, gain of function; LOF, loss of function; PDGF, platelet-derived growth factor; PI3K, phosphoinositide 3-kinase.