phs000446
St. Jude Children''s Research Hospital - Washington University Pediatric Cancer Genome Project (PCGP): Whole Genome Sequencing of Pediatric High-Grade Glioma
Pediatric high-grade gliomas (HGGs) comprise 15-20% of all pediatric CNS tumors, and carry an abysmal prognosis, with 70-90% of patients dying within 2 years of diagnosis. Genome-wide analyses of copy number imbalances and gene expression signatures have shown significant differences between the molecular signatures of pediatric and adult HGGs. We searched for genetic abnormalities driving pediatric HGG including glioblastoma and diffuse intrinsic pontine glioma (DIPG) through whole genome sequencing of test cases of HGG followed by frequency testing for mutations in candidate driver mutations in a larger cohort of pediatric HGG.