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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.