DNA Analysis of Paediatric Low-Grade Astrocytomas Identifies Tumour-Specific Signature in Pilocytic Astrocytomas

This detailed study, conducted by Dr. Denise Sheer from Queen Mary/University of London and others, focuses on DNA methylation and gene expression to improve researchers’ understanding of the biology of pilocytic and diffuse astrocytomas. Pilocytic Astrocytomas were found to have a distinctive signature at 315 CpG sites, of which 312 were hypomethylated and 3 were hypermethylated. Genomic analysis revealed that 182 of these sites are within annotated enhancers. The signature was not present in diffuse astrocytomas, or in published profiles of other brain tumors and normal brain tissue. These findings highlight novel genetic and epigenetic differences between pilocytic and diffuse astrocytoma, in addition to well described alterations involving BRAF, NYB and FGR1.

Funded in 2016.