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