Table 2.
DNA Alterations | RNA Expression | Protein Expression | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
Function | Gene | Amplified | Deleted | Mutation/Fusion/Promoter Methylation (MGMTonly) | Low | High | Low | High | Total Unique cases | References |
Receptor | ACVR1 | 0/9 | 0/9 | 0/12 | NR | NR | NR | NR | 12 | 19,46 |
EGFR | 4/31 | 0/10 | 0/14 | 1/5 | 0/5 | 14/22 | 4/22 | 48 | 18, 24–28, 33, 40, 41, 46, 48, 49 | |
PDGFRA | 10/21 | 0/18 | 7/16 | 0/5 | 5/5 | 2/7 | 3/7 | 32 | 18 a , 19, 28, 33, 40, 43, 46 | |
Signal transduction | BRAF | 0/9 | 0/9 | 3/19 | NR | NR | NR | NR | 19 | 19, 38b, 42 c , 46 |
NF-1 | 0/18 | 0/18 | 2/19 | 1/1 | 0/1 | NR | NR | 19 | 33,40,46 | |
PIK3CA | 0/9 | 0/9 | 3/12 | NR | NR | NR | NR | 12 | 19,40,46 | |
PTEN | 0/9 | 4/25 | 1/22 | 0/1 | 0/1 | 0/4 | 4/4 | 32 | 18, 19, 24, 28, 40, 41, 43, 46 | |
Cellular metabolism | IDH1 | 0/9 | 0/9 | 1/47 | 0/1 | 1/1 | NR | NR | 47 | 34 d, 36, 38d,e, 39d, 40, 41d, 42, 43d, 46, 47d, 50 |
IDH2 | 0/9 | 0/9 | 0/16 | NR | NR | NR | NR | 16 | 36, 38e, 42, 46 | |
Cell cycle regulation | CDK4 | 4/10 | 0/10 | 0/10 | NR | NR | NR | NR | 10 | 46,49 |
CDKN2A | 0/10 | 13/28 | 0/10 | NR | NR | 1/3 | 2/3 | 31 | 19, 24, 33, 40, 42, 46, 49 | |
Transcriptional regulation/ chromatin modification |
ATRX | 0/10 | 0/10 | 3/10 | NR | NR | 0/12 | 12/12 | 22 | 38, 39, 41, 42, 45, 46, 48 |
H3F3A | 0/9 | 0/9 | 0/21 | NR | NR | NR | NR | 21 | 19, 38 f , 39f, 40, 42g, 46 | |
HIST1H3B | 0/9 | 0/9 | 0/12 | NR | NR | NR | NR | 12 | 19,46 | |
MYCN | 1/10 | 0/10 | 0/10 | NR | NR | NR | NR | 10 | 46,49 | |
SMARCB1 | 0/10 | 0/10 | 0/10 | NR | NR | NR | NR | 10 | 46,49 | |
TERT promoter | 0/9 | 0/9 | 0/11 | NR | NR | NR | NR | 11 | 38,46 | |
TP53 | 0/13 | 2/14 | 14/30 | 0/1 | 0/1 | 20/42 | 12/42 | 61 | 18, 19, 22–28, 30, 31, 34, 37, 38, 40–43, 45, 46, 48, 49 | |
DNA repair | MGMT | NR | NR | 8/29 promoter methylated | NR | NR | 4/10 | 6/10 | 33 | 28,29,32,35,39,41,44,45,50 |
Data expressed as the total number of tumors positive for the described alteration as a fraction of the total number of tumors tested for that alteration (n/n). Genes are grouped based on function.
NR, not reported.
aPooled microarray data excluded from analysis as individual tumor data unavailable.
bMutational status determined by BRAF V600E direct sequencing.
cMutational status determined by BRAF V600E IHC.
dMutational status determined by IDH1 mutant-specific antibody via IHC.
eMutational status determined by direct sequencing.
fMutational status determined by H3K27M IHC.
gMutational status determined by K27M, G34R, G34V mutation detection by direct sequencing.