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Table 2 Frequent genetic alterations in group 4 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 Location Function
86 17q Mainly gain
79 17p Mainly loss
54 7q Mainly gain
50 8p Loss
43 7p Mainly gain
43 8q Loss
32 11p Loss
28 11q Mainly loss
21 X Loss
17 PRDM6 Amplification, overexpression PR/SET domain 6 5q23.2 Chromatin modulation
10 SNCAIP Tandem duplication Synuclein alpha interacting protein 5q23.2 Chromatin modulation
9 GFI1B Amplification, overexpression, deletion Growth factor independent 1B transcriptional repressor 9q34.13 Transcriptional regulation
8 DDX31 Deletion DEAD-box helicase 31 9q34.13 RNA metabolism
8 MYC Amplification MYC proto-oncogene, bHLH transcription factor 8q24.21 Transcriptional regulation
8 CHD7 Mutation Chromodomain helicase DNA binding protein 7 8q12.2 Chromatin modulation
8 DDX31 Mutation DEAD-box helicase 31 9q34.13 RNA metabolism
7 KDM6A Mutation Lysine demethylase 6A Xp11.3 Chromatin modulation
6 KBTBD4 Mutation Kelch repeat and BTB domain containing 4 11p11.2 Ubiquitination of target substrates
6 KMT2C Mutation Lysine methyltransferase 2C 7q36.1 Chromatin modulation
6 ZMYM3 Mutation Zinc finger MYM-type containing 3 Xq13.1 Chromatin modulation
6 OTX2 Amplification Orthodenticle homeobox 2 14q22.3 Transcriptional regulation
6 MYCN Amplification MYCN proto-oncogene, bHLH transcription factor 2p24.3 Transcriptional regulation
5 KDM4C Mutation Lysine demethylase 4C 9p24.1 Chromatin modulation
4 ZIC1 Mutation Zic family member 1 3q24 Transcriptional regulation
4 CDK6 Amplification Cyclin-dependent kinase 6 7q21.2 Cell cycle
3 FLG Mutation Filaggrin 1q21.3 Matrix protein
3 KMT2D Mutation Lysine methyltransferase 2D 12q13.12 Chromatin modulation
3 TBR1 Mutation T-box, brain 1 2q24.2 Transcriptional regulation
3 TERT Mutation Telomerase reverse transcriptase 5p15.33 Genome maintenance
3 GFI1 Amplification, overexpression Growth factor independent 1 transcriptional repressor 1p22.1 Transcriptional regulation
3 CCND2 Amplification Cyclin D2 12p13.32 Cell cycle
3 CTNNB1 Low level amplification Catenin beta 1 3p22.1 Wingless signaling
3 CTDNEP1 Mutation CTD nuclear envelope phosphatase 1 17p13.1 Metabolism of fatty acids
3 KDM1A Mutation Lysine demethylase 1A 1p36.12 Chromatin modulation
3 KDM5A Mutation Lysine demethylase 5A 12p13.33 Chromatin modulation
3 PIK3CA Mutation Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 3q26.32 Cell signaling
2 ATM Mutation ATM serine/threonine kinase 11q22.3 Genome maintenance
2 BRCA2 Mutation BRCA2, DNA repair associated 13q13.1 Genome maintenance
2 FAT1 Mutation FAT atypical cadherin 1 4q35.2 Cell signaling
2 MED12 Mutation Mediator complex subunit 12 Xq13.1 Chromatin modulation
2 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
2 ACVR2B Amplification Activin A receptor type 2B 3p22.2 Cell signaling
2 SEMA3D Amplification Semaphorin 3D 7q21.11 Axon guidance during development
FOXG1 Overexpression Forkhead box G1 14q12 Transcriptional regulation
KCNA1 Overexpression Potassium voltage-gated channel subfamily A member 1 12p13.32 Voltage-gated potassium (K+) channel
EOMES Overexpression Eomesodermin 3p24.1 Transcriptional regulation
KHDRBS2 Overexpression KH RNA binding domain containing, signal transduction associated 2 6q11.1 RNA metabolism
RBM24 Overexpression RNA binding motif protein 24 6p22.3 RNA metabolism
UNC5D Overexpression Unc-5 netrin receptor D 8p12 Cell adhesion, axon guidance
OAS1 Overexpression 2′-5′-Oligoadenylate synthetase 1 12q24.2 Cellular innate antiviral response