Skip to main content

Table 1 Frequent genetic alterations in group 3 MBs according to [6, 12, 28, 38, 40, 113]

From: Molecular markers and potential therapeutic targets in non-WNT/non-SHH (group 3 and group 4) medulloblastomas

Percentage of patients Gene/chromosome Modification Gene name Gene location Gene function
58 17q Mainly gain
55 17p Mainly loss
55 8q Gain or loss
51 8p Gain or loss
48 7q Mainly gain
43 10q Mainly loss
42 16q Mainly loss
41 1q Mainly gain
39 7p Mainly gain
38 13q Gain or loss
34 11q Mainly loss
32 11p Mainly loss
31 5q Mainly gain
30 5p Mainly gain
21 X Loss
17 MYC Amplification, overexpression MYC proto-oncogene, bHLH transcription factor 8q24.21 Transcriptional regulation
12 PVT1 Amplification Pvt1 oncogene (non-protein coding) 8q24.21 Oncogenic lncRNA
11 GFI1B overexpression, amplification, deletion Growth factor independent 1B transcriptional repressor 9q34.13 Transcriptional regulation
9 SMARCA4 Mutation SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 19p13.2 Chromatin modulation, SWI/SNF Nucleosome-remodeling complex
6 KBTBD4 Mutation Kelch repeat and BTB domain containing 4 11p11.2 Ubiquitination of target substrates
6 SHPRH Low level amplification SNF2 histone linker PHD RING helicase 6q24.3 Genome maintenance
5 CD109 Deletion CD109 molecule 6q13 TGF-β signaling
5 CTDNEP1 Mutation CTD nuclear envelope phosphatase 1 17p13.1 Metabolism of fatty acids
5 KMT2D Mutation Lysine methyltransferase 2D 12q13.12 Chromatin modulation
5 KDM7A Mutation Lysine demethylase 7A 7q34 Chromatin modulation
5 CHD7 Mutation Chromodomain helicase DNA binding protein 7 8q12.2 Chromatin modulation
5 DDX3X Mutation DEAD-box helicase 3, X-linked Xp11.4 RNA metabolism
5 KDM3A Mutation Lysine demethylase 3A 2p11.2 Chromatin modulation
5 KDM4C Mutation Lysine demethylase 4C 9p24.1 Chromatin modulation
5 KDM5B Mutation Lysine demethylase 5B 1q32.1 Chromatin modulation
5 KDM6A Mutation Lysine demethylase 6A Xp11.3 Chromatin modulation
5 MYCN Amplification MYCN proto-oncogene, bHLH transcription factor 2p24.3 Transcriptional regulation
5 CREBBP Amplification CREB binding protein 16p13.3 Chromatin modulation, transcription initiation
5 DDX31 Amplification DEAD-box helicase 31 9q34.13 RNA metabolism
4 ESRRG Low level amplification Estrogen-related receptor gamma 1q41 Transcriptional regulation, estrogen signaling
4 SNX6 Deletion Sorting nexin 6 14q13.1 TGF-β signaling
4 GFI1 Overexpression, amplification Growth factor independent 1 transcriptional repressor 1p22.1 Transcriptional regulation
3 OTX2 Amplification, overexpression Orthodenticle homeobox 2 14q22.3 Transcriptional regulation
3 FKBP1A Deletion FK506 binding protein 1A 20p13 TGF-β signaling
3 CDK6 Amplification Cyclin-dependent kinase 6 7q21.2 Cell cycle
2 ACVR2A Amplification Activin A receptor type 2A 2q22.3-q23.1 TGF-β signaling
2 TGFBR1 Amplification Transforming growth factor beta receptor 1 9q22.33 TGF-β signaling
2 BRCA2 Mutation BRCA2, DNA repair associated 13q13.1 Genome maintenance
1 ACVR2B Amplification Activin A receptor type 2B 3p22.2 TGF-β signaling
1 E2F5 Amplification E2F transcription factor 5 8q21.2 Transcriptional regulation
FOXG1 Overexpression Forkhead box G1 14q12 Transcriptional regulation
IMPG2 Overexpression Interphotoreceptor matrix proteoglycan 2 3q12.3 Proteoglycan
GABRA5 Overexpression Gamma-aminobutyric acid type A receptor alpha5 subunit 15q12 Neurotransmission
EGFL11 Overexpression Eyes shut homolog (Drosophila) 6q12 Cell signaling
NRL Overexpression Neural retina leucine zipper 14q11.2-q12 Transcriptional regulation
MAB21L2 Overexpression Mab-21 like 2 4q31.3 TGF-β signaling, neural development
NPR3 Overexpression Natriuretic peptide receptor 3 5p13.3 Natriuretic peptide metabolism