The genomic landscape of paediatric brain tumours – Recent advances

David Jones1

1German Cancer Research Centre (DKFZ), Heidelberg, Germany


The next-generation sequencing era has heralded enormous advances in our understanding of basic biological mechanisms and potential therapeutic targets across a wide spectrum of paediatric brain tumour entities. Game-changing technological advances have empowered researchers to make truly innovative new discoveries about oncogenic alterations, from dominant-negative histone mutations which can globally reprogram the epigenome (histone 3 mutations in paediatric glioblastoma), to ‘hijacking' of distal enhancer elements through structural alterations that result in aberrant oncogene activation (e.g. GFI1/GFI1B activation in medulloblastoma). As with many other tumour types, epigenetic dysregulation has emerged as a prominent theme across many types of paediatric brain cancer, highlighting a promising new avenue for potential targeted therapeutics. This talk will outline some of the most significant recent findings in the genomic landscape of paediatric brain tumours and how they are now transforming both basic neuro-oncology research as well as molecular diagnostic practice, with a look at how these results may now be translated into the clinic and used to guide personalised oncology.