Table 2 Frequent genetic alterations in group 4 MBs according to [6, 12, 28, 38, 40, 113]

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