Study

Comprehensive molecular profiling identifies novel genetic drivers and subtypes underlying medulloblastoma

Study ID Alternative Stable ID Type
EGAS00001001953 Other

Study Description

Current therapies for medulloblastoma (MB), a highly malignant childhood brain tumor, impose debilitating effects on the developing child, warranting the development of molecularly targeted treatments with reduced toxicities. Prior studies have failed to disclose the full spectrum of driver genes and molecular processes operative in MB or adequately explain heterogeneity among molecular subgroups. Herein, we detail the somatic landscape across 491 sequenced MBs and molecular heterogeneity amongst 1,256 epigenetically analyzed cases, identifying subgroup-specific mutational signatures, driver genes, and pathway alterations including previously unappreciated actionable therapeutic targets. Integrative approaches for assigning driver genes to subgroups explained >65-70% of Group 3 and Group 4, doubling previous knowledge. Novel subtypes underlying Group 3 and Group 4 were differentially enriched for specific driver events, including hotspot in-frame indels targeting KBTBD4 and ‘enhancer hijacking’ driving activation of PRDM6. Thus, application of integrative genomics to an ... (Show More)

Study Datasets 9 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003125
WGS data of medulloblastoma tumor/control pairs.
224
EGAD00001003126
WGS data of medulloblastoma tumor/control pairs.
74
EGAD00001003127
WGS data of medulloblastoma tumor/control pairs.
482
EGAD00001003128
Exome sequencing data for medulloblastoma tumor/control pairs
35
EGAD00001003279
RNA sequencing data for 170 medulloblastoma tumor samples
Illumina HiSeq 2000 171
EGAD00010001300
Medulloblastoma expression profiling
Affymetrix expression array 146
EGAD00010001301
Medulloblastoma expression profiling
Affymetrix expression array 246
EGAD00010001319
Medulloblastoma methylation profiling
Illumina Infinium HumanMethylation450 BeadChip 345
EGAD00010001323
Medulloblastoma methylation profiling
Illumina Infinium HumanMethylation450 BeadChip 911

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