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