Table 1.

Clinically relevant mutations in neuroblastoma

Chr	Gene	Gene name	Status	Predisposition	Function	References
1p36.31	CHD5	Chromodomain helicase DNA binding protein	Deletion	Sporadical	Chromatin remodelling and gene transcription	[44]
1p36.3–p36.2	DFF45	DNA fragmentation factor	Mutation	Sporadical	Apoptosis	[186]
1q23.3	DUSP12	Dual specificity phosphatase 12	SNP	Sporadical	Negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38)	[187]
1p36.3	UBE4B	Ubiquitination factor E4B	Mutation	Sporadical	Ubiquitination	[50]
2p23	ALK	Anaplastic lymphoma receptor tyrosine kinase	Mutation, amplification	Hereditable	Genesis and differentiation of the nervous system	[6, 7, 9, 188–197]
2q35	BARD1	BRCA1-assosiated RING domain	SNPs	Sporadical	Interaction with the N-terminal region of BRCA1	[87]
4p12	PHOX2B	Paired-like homeobox 2B	Germline missense or frameshift	Hereditable, sporadical	Transcription factor	[5, 83, 198–200]
5q11.2	DDX4	DEAD box polypeptide 4 isoform	SNP		Alteration of RNA secondary structure	[187]
5q11.2	IL31RA	Interleukin 31 receptor A precursor	SNP		Signaling via activation of STAT-3 and STAT-5	[187]
6p22	FLJ44180	Long intergenic non-protein coding RNA 340	SNP		–	[89]
6p22	FLJ22536	Long intergenic non-protein coding RNA 340	SNP		–	[89]
9p21	CKDNA	Cyclin-dependent kinase inhibitor 2A	Mutation, deletion	Sporadical	Cell cycle G1 control	[201–204]
9p23–p24.3	PTPRD	Protein tyrosine phosphatase, receptor type, D	Microdeletion		Signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation	[8, 9]
11q13	CCND1	Cyclin D1	Amplification, rearrangement		Proto-oncogene, control of cell cycle/cellular proliferation	[56, 205]
11p11.2	HSD17B12	Hydroxysteroid (17-beta) dehydrogenase 12	SNP		Converts estrone into estradiol in ovarian tissue	[187]
6q21	LIN28B	Lin-28 homolog B	SNP		RNA binding protein, negatively regulates let-7 processing	[93]
11p15.4	LMO1	LIM domain only 1	SNP, amplification	Sporadical	Cysteine-rich transcriptional regulator	[88]
12q24	PTPN11	Protein tyrosine phosphatase, non- receptor type 11	Mutation	Sporadical	Regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic	[206, 207]
17q11.2	NF1	Neurofibromin 1	Deletion		Negative regulator of the ras signal transduction pathway	[208]
17q13.1	P53	Tumor protein p53, TP53	Mutation	Sporadical	DNA binding protein	[146]
18q21.3	DCC	Netrin 1 receptor	Mutation, deletion	Sporadical	Member of the immunoglobulin superfamily of cell adhesion molecules	[209]
20p11	SLC24A3	Solute carrier family 24	SNP	Sporadical	Plasma membrane sodium/calcium exchangers	[89]