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

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