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Genetic landscape of pediatric Medulloblastoma

Medulloblastoma is a heterogenous disease made up of at least four distinct subtypes of disease which appear to exploit and disrupt naturally occurring developmental pathways of cellular growth and hindbrain development. To better understand the driver mutations of this disease, we performed whole genome sequencing of 37 medulloblastomas and the corresponding normal DNA of the 37 affected children treated at St. Jude Children's Research Hospital. We have found several novel mutations which appear subtype specific. These mutations were checked for frequency in a separate tumor cohort of 56 children with medulloblastoma, also treated on the St. Jude Medulloblastoma 2003 trial, and were tested in several animal models of medulloblastoma for proof of oncogenic potential.

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
EGAD00001000269 Illumina HiSeq 2000 68
EGAD00001001432 Illumina HiSeq 2000 1337
EGAD00001001864 Illumina HiSeq 2000 76
Publications Citations
Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data.
Genome Biol 13: 2012 R113
Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.
Nature 511: 2014 428-434
The landscape of coding RNA editing events in pediatric cancer.
BMC Cancer 21: 2021 1233
Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers.
Nat Cancer 4: 2023 276-289