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GEO help: Mouse over screen elements for information. |
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| Status |
Public on Jul 06, 2012 |
| Title |
Novel mutations target distinct subgroups of medulloblastoma. |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
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.
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| Overall design |
A total of 76 pediatric medulloblastoma samples were analyzed, representing 4 expression classes
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| Contributor(s) |
Robinson G, Parker M, Kranenburg TA, Lu C, Chen X, Ding L, Phoenix TN, Hedlund E, Wei L, Zhu X, Chalhoub N, Baker SJ, Huether R, Kriwacki R, Curley N, Thiruvenkatam R, Wang J, Wu G, Rusch M, Hong X, Beckford J, Gupta P, Ma J, Easton J, Vadodaria B, Onar-Thomas A, Lin T, Li S, Pounds S, Paugh S, Zhao D, Kawauchi D, Roussel MF, Finkelstein D, Ellison DW, Lau CC, Bouffet E, Hassall T, Gururangan S, Cohn R, Fulton1 RS, Fulton LL, Dooling DJ, Ochoa K, Gajjar A, Mardis ER, Wilson RK, Downing JR, Zhang J, Gilbertson RJ |
| Citation(s) |
22722829, 26199091 |
| Submission date |
Apr 19, 2012 |
| Last update date |
Mar 25, 2019 |
| Contact name |
David Finkelstein |
| E-mail(s) |
david.finkelstein@stjude.org
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| Phone |
9014953931
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| Organization name |
St Jude Children's Research Hospital
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| Department |
Computational Biology
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| Street address |
332 N. Lauderdale St.
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| City |
Memphis |
| State/province |
TN |
| ZIP/Postal code |
38105 |
| Country |
USA |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (76)
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| Relations |
| BioProject |
PRJNA159949 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE37418_RAW.tar |
350.4 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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