Dataset: Novel mutations target distinct subgroups of medulloblastoma.

Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive...

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Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive medulloblastoma we sequenced the entire genomes of 37 tumours and matched normal blood. One hundred and thirty-six genes harbouring somatic mutations in this discovery set were sequenced in an additional 56 medulloblastomas. Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma: several target distinct components of the epigenetic machinery in different disease subgroups, e.g., regulators of H3K27 and H3K4 trimethylation in subgroup-3 and 4 (e.g., KDM6A and ZMYM3), and CTNNB1-associated chromatin remodellers in WNT-subgroup tumours (e.g., SMARCA4 and CREBBP). Modelling of mutations in mouse lower rhombic lip progenitors that generate WNT-subgroup tumours, identified genes that maintain this cell lineage (DDX3X) as well as mutated genes that initiate (CDH1) or cooperate (PIK3CA) in tumourigenesis. These data provide important new insights into the pathogenesis of medulloblastoma subgroups and highlight targets for therapeutic development. A total of 76 pediatric medulloblastoma samples were analyzed, representing 4 expression classes

Species:: human
Samples:: 76
Source:: E-GEOD-37418
PubMed:: 22722829
Updated:: Dec.12, 2014
Registered:: Sep.19, 2014

Factors: (via ArrayExpress)

Sample	M STAGE	SEX	AGE	ETHNIC	SUBGROUP
GSM918578	MB-CL	male	8yrs 4mos	White	G4
GSM918579	MB-CL	male	8yrs 3mos	Black	G4
GSM918580	MB-CL	female	6yrs 6mos	White	WNT
GSM91858	MB-CL	male	9yrs 2mos	White	G4
GSM918582	MB-DN	male	8yrs 6mos	Asian	SHH
GSM918583	MB-CL	female	8yrs 1mos	White	G4
GSM918584	MB-CL	male	8yrs 8mos	White	G4
GSM918585	MB-CL	female	9yrs 0mos	White	G4
GSM918586	MB-AN	male	10yrs 10mos	White	G3
GSM918587	MB-CL	male	9yrs 8mos	other	G3
GSM918588	MB-CL	male	4yrs 11mos	White	G3
GSM918589	MB-CL	male	5yrs 2mos	Hispanic	G3
GSM918590	MB-AN	male	8yrs 9mos	Hispanic	G4
GSM91859	MB-CL	male	9yrs 4mos	White	G4
GSM918592	MB-CL	male	14yrs 8mos	Hispanic	G4
GSM918593	MB-CL	female	9yrs 1mos	White	WNT
GSM918594	MB-AN	male	4yrs 8mos	White	G3
GSM918595	MB-CL	female	7yrs 9mos	Asian Indian	G4
GSM918596	MB-CL	female	3yrs 4mos	White	G4
GSM918597	MB-CL	male	5yrs 5mos	White	G4
GSM918598	MB-CL	male	11yrs 9mos	White	G4
GSM918599	MB-CL	male	6yrs 9mos	Hispanic	G4
GSM918600	MB-AN	male	12yrs 11mos	White	G3
GSM91860	MB-AN	male	3yrs 4mos	White	G3
GSM918602	MB-CL	female	13yrs 5mos	Hispanic	G4
GSM918603	MB-CL	male	11yrs 7mos	White	WNT
GSM918604	MB-CL	male	3yrs 8mos	White	G4
GSM918605	MB-CL	male	5yrs 0mos	White	G4
GSM918606	MB-DN	female	16yrs 1mos	White	SHH
GSM918607	MB-AN	female	10yrs 0mos	Asian Indian	SHH
GSM918608	MB-CL	female	3yrs 2mos	Asian	SHH
GSM918609	MB-AN	female	8yrs 7mos	White	SHH
GSM918610	MB-AN	male	11yrs 9mos	White	G4
GSM9186	MB-CL	male	8yrs 7mos	White	G3
GSM918612	MB-AN	male	3yrs 2mos	Hispanic	G3
GSM918613	MB-CL	male	4yrs 3mos	White	G4
GSM918614	MB-AN	male	6yrs 11mos	Hispanic	G3
GSM918615	MB-AN	male	6yrs 2mos	Hispanic	G4
GSM918616	MB-AN	male	11yrs 7mos	White	G4
GSM918617	MB-CL	female	12yrs 11mos	Asian	G4
GSM918618	MB-Myo	male	10yrs 10mos	White	U
GSM918619	MB-CL	male	16yrs 8mos	White	SHH
GSM918620	MB-DN	female	7yrs 0mos	Asian	SHH
GSM91862	MB-CL	male	8yrs 9mos	Hispanic	SHH
GSM918622	MB-AN	female	6yrs 9mos	Black	G4
GSM918584	MB-CL	male	8yrs 8mos	White	G4
GSM918589	MB-CL	male	5yrs 2mos	Hispanic	G3
GSM918625	MB-CL	female	9yrs 2mos	Pacific Islander	WNT
GSM918626	MB-CL	male	6yrs 4mos	Hispanic	G4
GSM918627	MB-CL	male	6yrs 11mos	White	G4
GSM918628	MB-DN	male	8yrs 4mos	Black	SHH OUTLIER
GSM918629	MB-AN	male	13yrs 7mos	White	G3
GSM918630	MB-CL	female	6yrs 4mos	Black	G4
GSM91863	MB-CL	female	5yrs 9mos	Asian Indian	G4
GSM918632	MB-AN	male	9yrs 2mos	White	G4
GSM918584	MB-CL	male	8yrs 8mos	White	G4
GSM918634	MB-CL	male	8yrs 2mos	White	G4
GSM918635	MB-CL	male	5yrs 10mos	Asian Indian	G4
GSM918636	MB-AN	female	7yrs 1mos	other	G3
GSM918637	MB-CL	male	3yrs 11mos	Asian	G3
GSM918638	MB-CL	female	8yrs 2mos	Hispanic	WNT
GSM918639	MB-CL	male	5yrs 0mos	White	G3
GSM918640	MB-CL	male	10yrs 3mos	White	G3
GSM91864	MB-CL	male	8yrs 5mos	White	WNT
GSM918642	MB-CL	female	8yrs 5mos	other	WNT
GSM918643	MB-CL	female	8yrs 4mos	Asian	WNT
GSM918644	MB-Myo	female	9yrs 1mos	Asian	U
GSM918627	MB-CL	male	6yrs 11mos	White	G4
GSM918646	MB-CL	male	9yrs 10mos	White	G4
GSM918647	MB-AN	male	11yrs 8mos	White	G4
GSM918648	MB-CL	male	12yrs 1mos	White	G4
GSM918649	MB-DN	male	4yrs 1mos	White	SHH
GSM918650	MB-CL	male	12yrs 2mos	White	G4
GSM91865	MB-DN	male	5yrs 1mos	White	SHH
GSM918652	MB-CL	male	10yrs 10mos	Hispanic	G4
GSM918653	MB-CL	male	5yrs 9mos	Black	G4