Neuroblastic Tumor — Genomics

Neuroblastic Tumor — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

7 cohorts mapped to this entity or its descendants. Each frequency is affected / profiled within one cohort; cohorts are shown separately because case selection, sequencing depth and definitions differ. By default the cohort with the most cases profiled is shown.

Neuroblastoma TARGET-NBLTARGET

696 cases with simple somatic mutation data · 1,132 cases total · Data Release 46.0 · mapped to Neuroblastoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16

Cohorts mapped to a descendant (e.g. a subtype) are included because their cases belong to this entity by definition; the mapping and its match type are shown per cohort.

Neuroblastoma (AMC Amsterdam, Nature 2012) nbl_amc_2012AMC Amsterdam

87 cases with simple somatic mutation data · 87 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ZNF717	Ssm	6	87	6.9%	cbioportal
2	ALK	Ssm	5	87	5.7%	cbioportal
3	TIAM1	Ssm	3	87	3.4%	cbioportal
6	ARHGAP10	Ssm	2	87	2.3%	cbioportal
7	ATP13A5	Ssm	2	87	2.3%	cbioportal
8	DAG1	Ssm	2	87	2.3%	cbioportal
9	DYSF	Ssm	2	87	2.3%	cbioportal
10	FAN1	Ssm	2	87	2.3%	cbioportal
11	FRMPD2	Ssm	2	87	2.3%	cbioportal
12	MYOM2	Ssm	2	87	2.3%	cbioportal
13	NALCN	Ssm	2	87	2.3%	cbioportal
14	NEB	Ssm	2	87	2.3%	cbioportal
15	PDE8B	Ssm	2	87	2.3%	cbioportal
16	RFESD	Ssm	2	87	2.3%	cbioportal
17	RYR1	Ssm	2	87	2.3%	cbioportal
20	ZNF462	Ssm	2	87	2.3%	cbioportal
18	TMC3	Ssm	2	87	2.3%	cbioportal
19	WDR87	Ssm	2	87	2.3%	cbioportal
5	ANO8	Ssm	2	87	2.3%	cbioportal
4	AKAP9	Ssm	2	87	2.3%	cbioportal
149	ETNPPL	Ssm	1	87	1.1%	cbioportal
141	ENDOU	Ssm	1	87	1.1%	cbioportal
142	ENPP1	Ssm	1	87	1.1%	cbioportal
143	EPB41L2	Ssm	1	87	1.1%	cbioportal
144	EPHA5	Ssm	1	87	1.1%	cbioportal
145	EPPK1	Ssm	1	87	1.1%	cbioportal
146	ERICH6	Ssm	1	87	1.1%	cbioportal
147	ESCO2	Ssm	1	87	1.1%	cbioportal
148	ETAA1	Ssm	1	87	1.1%	cbioportal
150	EXD2	Ssm	1	87	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (Broad, Nat Genet 2013) nbl_broad_2013Broad

240 cases with simple somatic mutation data · 240 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	22	240	9.2%	cbioportal
2	MUC16	Ssm	15	240	6.3%	cbioportal
3	TTN	Ssm	12	240	5%	cbioportal
4	AHNAK2	Ssm	8	240	3.3%	cbioportal
6	FLG	Ssm	7	240	2.9%	cbioportal
5	FAT2	Ssm	7	240	2.9%	cbioportal
7	PTPN11	Ssm	7	240	2.9%	cbioportal
15	TNXB	Ssm	6	240	2.5%	cbioportal
13	RYR1	Ssm	6	240	2.5%	cbioportal
8	ABCA13	Ssm	6	240	2.5%	cbioportal
9	ATRX	Ssm	6	240	2.5%	cbioportal
10	BLTP1	Ssm	6	240	2.5%	cbioportal
11	HMCN1	Ssm	6	240	2.5%	cbioportal
12	LRP1B	Ssm	6	240	2.5%	cbioportal
14	SPTA1	Ssm	6	240	2.5%	cbioportal
21	MUC17	Ssm	5	240	2.1%	cbioportal
16	AHNAK	Ssm	5	240	2.1%	cbioportal
17	DNAH5	Ssm	5	240	2.1%	cbioportal
18	DOCK8	Ssm	5	240	2.1%	cbioportal
19	FBN2	Ssm	5	240	2.1%	cbioportal
20	FREM2	Ssm	5	240	2.1%	cbioportal
22	NBPF10	Ssm	5	240	2.1%	cbioportal
23	SYNE2	Ssm	5	240	2.1%	cbioportal
24	TCHH	Ssm	5	240	2.1%	cbioportal
25	TNC	Ssm	5	240	2.1%	cbioportal
30	DNAH3	Ssm	4	240	1.7%	cbioportal
27	APOB	Ssm	4	240	1.7%	cbioportal
28	ATP10B	Ssm	4	240	1.7%	cbioportal
29	DNAH1	Ssm	4	240	1.7%	cbioportal
31	FAM47C	Ssm	4	240	1.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (Broad, Nature 2015) nbl_ucologne_2015Broad

56 cases with simple somatic mutation data · 56 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	5	56	8.9%	cbioportal
2	MUC16	Ssm	3	56	5.4%	cbioportal
25	WWP1	Ssm	2	56	3.6%	cbioportal
24	TTN	Ssm	2	56	3.6%	cbioportal
23	TNXB	Ssm	2	56	3.6%	cbioportal
22	TBP	Ssm	2	56	3.6%	cbioportal
21	SNX21	Ssm	2	56	3.6%	cbioportal
20	PDE6A	Ssm	2	56	3.6%	cbioportal
19	PCDHB12	Ssm	2	56	3.6%	cbioportal
18	NEB	Ssm	2	56	3.6%	cbioportal
17	MYH1	Ssm	2	56	3.6%	cbioportal
16	MUC17	Ssm	2	56	3.6%	cbioportal
15	LHCGR	Ssm	2	56	3.6%	cbioportal
14	LATS2	Ssm	2	56	3.6%	cbioportal
13	KRT10	Ssm	2	56	3.6%	cbioportal
12	ITGAE	Ssm	2	56	3.6%	cbioportal
11	IGFN1	Ssm	2	56	3.6%	cbioportal
10	HGSNAT	Ssm	2	56	3.6%	cbioportal
9	GJA3	Ssm	2	56	3.6%	cbioportal
8	GIGYF2	Ssm	2	56	3.6%	cbioportal
7	DSC2	Ssm	2	56	3.6%	cbioportal
6	COL5A3	Ssm	2	56	3.6%	cbioportal
5	CASR	Ssm	2	56	3.6%	cbioportal
4	BAIAP2L2	Ssm	2	56	3.6%	cbioportal
3	AHNAK2	Ssm	2	56	3.6%	cbioportal
26	XIRP2	Ssm	2	56	3.6%	cbioportal
30	ABCD3	Ssm	1	56	1.8%	cbioportal
27	ABCA2	Ssm	1	56	1.8%	cbioportal
28	ABCC12	Ssm	1	56	1.8%	cbioportal
29	ABCC4	Ssm	1	56	1.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (TARGET GDC, 2025) nbl_target_gdcTARGET GDC

471 cases with simple somatic mutation data · 533 cases total · 2026-01-14 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	64	471	13.6%	cbioportal
2	MUC16	Ssm	16	471	3.4%	cbioportal
3	ATRX	Ssm	13	471	2.8%	cbioportal
4	PTPN11	Ssm	12	471	2.5%	cbioportal
5	DNAH2	Ssm	10	471	2.1%	cbioportal
6	FLG	Ssm	9	471	1.9%	cbioportal
13	MYH2	Ssm	8	471	1.7%	cbioportal
12	FAT2	Ssm	8	471	1.7%	cbioportal
11	DOCK8	Ssm	8	471	1.7%	cbioportal
10	COL5A3	Ssm	8	471	1.7%	cbioportal
9	AHNAK2	Ssm	8	471	1.7%	cbioportal
8	AHNAK	Ssm	8	471	1.7%	cbioportal
7	ABCA13	Ssm	8	471	1.7%	cbioportal
15	TNC	Ssm	8	471	1.7%	cbioportal
16	TTN	Ssm	8	471	1.7%	cbioportal
14	RYR1	Ssm	8	471	1.7%	cbioportal
18	RELN	Ssm	7	471	1.5%	cbioportal
17	FBN2	Ssm	7	471	1.5%	cbioportal
25	MET	Ssm	6	471	1.3%	cbioportal
28	SPTA1	Ssm	6	471	1.3%	cbioportal
27	NF1	Ssm	6	471	1.3%	cbioportal
26	MYCN	Ssm	6	471	1.3%	cbioportal
19	COL12A1	Ssm	6	471	1.3%	cbioportal
24	LRP1B	Ssm	6	471	1.3%	cbioportal
23	LRIF1	Ssm	6	471	1.3%	cbioportal
22	HMCN1	Ssm	6	471	1.3%	cbioportal
21	DNAH17	Ssm	6	471	1.3%	cbioportal
20	COL4A1	Ssm	6	471	1.3%	cbioportal
30	BLTP1	Ssm	5	471	1.1%	cbioportal
29	ATP10B	Ssm	5	471	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Pediatric Neuroblastoma (MSK, Nat Genet 2023) nbl_msk_2023MSK

223 cases with simple somatic mutation data · 223 cases total · 2026-02-10 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	33	223	14.8%	cbioportal
2	ATRX	Ssm	24	223	10.8%	cbioportal
3	SMARCA4	Ssm	9	223	4%	cbioportal
4	BRAF	Ssm	8	223	3.6%	cbioportal
5	BRCA2	Ssm	8	223	3.6%	cbioportal
6	TERT	Ssm	7	223	3.1%	cbioportal
15	KMT2B	Ssm	5	168	3%	cbioportal
8	FAT1	Ssm	6	223	2.7%	cbioportal
11	PTPN11	Ssm	6	223	2.7%	cbioportal
12	ROS1	Ssm	6	223	2.7%	cbioportal
9	KMT2D	Ssm	6	223	2.7%	cbioportal
10	KRAS	Ssm	6	223	2.7%	cbioportal
7	CREBBP	Ssm	6	223	2.7%	cbioportal
13	CD79B	Ssm	5	223	2.2%	cbioportal
16	NCOR1	Ssm	5	223	2.2%	cbioportal
14	IRS2	Ssm	5	223	2.2%	cbioportal
17	NF1	Ssm	5	223	2.2%	cbioportal
18	PDGFRA	Ssm	5	223	2.2%	cbioportal
29	CSDE1	Ssm	3	167	1.8%	cbioportal
46	TAP2	Ssm	3	167	1.8%	cbioportal
19	ARID1A	Ssm	4	223	1.8%	cbioportal
20	AXL	Ssm	4	223	1.8%	cbioportal
21	CDK12	Ssm	4	223	1.8%	cbioportal
22	ERBB3	Ssm	4	223	1.8%	cbioportal
25	PIK3R1	Ssm	4	223	1.8%	cbioportal
24	NRAS	Ssm	4	223	1.8%	cbioportal
23	MYCN	Ssm	4	223	1.8%	cbioportal
51	ZFHX3	Ssm	3	219	1.4%	cbioportal
48	TMPRSS2	Ssm	3	222	1.4%	cbioportal
42	PTPRT	Ssm	3	222	1.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Pediatric Neuroblastoma (TARGET, 2018) nbl_target_2018_pubTARGET

1,089 cases with simple somatic mutation data · 1,089 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NBPF10	Ssm	7	1,089	0.6%	cbioportal
3	PTPN11	Ssm	5	1,089	0.5%	cbioportal
2	DNAH2	Ssm	5	1,089	0.5%	cbioportal
5	NBPF1	Ssm	4	1,089	0.4%	cbioportal
4	COL6A3	Ssm	4	1,089	0.4%	cbioportal
7	TET2	Ssm	4	1,089	0.4%	cbioportal
6	NF1	Ssm	4	1,089	0.4%	cbioportal
8	AXL	Ssm	3	1,089	0.3%	cbioportal
9	COL5A3	Ssm	3	1,089	0.3%	cbioportal
10	MYCN	Ssm	3	1,089	0.3%	cbioportal
30	LRIF1	Ssm	2	1,089	0.2%	cbioportal
28	KCNH4	Ssm	2	1,089	0.2%	cbioportal
27	IL31RA	Ssm	2	1,089	0.2%	cbioportal
26	HERC1	Ssm	2	1,089	0.2%	cbioportal
25	FAT1	Ssm	2	1,089	0.2%	cbioportal
24	EPHA6	Ssm	2	1,089	0.2%	cbioportal
23	EP400	Ssm	2	1,089	0.2%	cbioportal
22	DOCK8	Ssm	2	1,089	0.2%	cbioportal
21	CSPG4	Ssm	2	1,089	0.2%	cbioportal
20	COL12A1	Ssm	2	1,089	0.2%	cbioportal
19	CNTN5	Ssm	2	1,089	0.2%	cbioportal
18	CARD11	Ssm	2	1,089	0.2%	cbioportal
17	CACNA1B	Ssm	2	1,089	0.2%	cbioportal
16	CACNA1A	Ssm	2	1,089	0.2%	cbioportal
15	ATM	Ssm	2	1,089	0.2%	cbioportal
14	ASB5	Ssm	2	1,089	0.2%	cbioportal
13	ARID1B	Ssm	2	1,089	0.2%	cbioportal
12	AR	Ssm	2	1,089	0.2%	cbioportal
11	AFF3	Ssm	2	1,089	0.2%	cbioportal
29	KRTAP4-9	Ssm	2	1,089	0.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-08