Chris Dunham

TL;DR: This work integrated whole-genome sequencing with methylation, expression and copy number profiling, discovering that DIPGs comprise three molecularly distinct subgroups (H3-K27M, silent and MYCN) and uncovering a new recurrent activating mutation affecting the activin receptor gene ACVR1 in 20% of DIPG.

TL;DR: DWI does not appear to be an entirely reliable means of distinguishing medulloblastomas from other cerebellar neoplasms.

TL;DR: This case is used to describe a framework for inclusion of gene expression into the clinical genomic evaluation of pediatric tumors, and describes a child with a rare sarcoma that was profiled with whole-genome and RNA sequencing (RNA-Seq) techniques.

TL;DR: Methylation of the promoter for the MGMT gene predicts for increased sensitivity to DNA alkylat­ ing agents such as temozolomide and is prognostic for overall survival (OS) in patients with GBM, especially older patients.

TL;DR: The first report of a NACC2-NTRK2 fusion in a histological glioblastoma was reported in this article. But this fusion was performed in a pediatric cerebellar brain tumor, which would not have been identified through routine diagnostics.