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The Children's Research Institute

Our Advances in Understanding & Treating DIPG

Mapping the genetic landscape

Mapping the genetic landscape

From just 12 samples six years ago, Children’s National has amassed one of the nation’s largest tumor bio banks - 3,000 specimens donated by more than 900 patients with all types of pediatric brain tumors, including diffuse intrinsic pontine glioma (DIPG).

Researchers have identified mutations associated with the gene that encodes histone protein to be associated with more than 70% of DIPGs.  These studies were done primarily using autopsied specimen.  This mutation is often noted as H3K27M mutation. Dr. Nazarian’s team, in collaboration with colleagues at McGill University, set to identify H3K27M partner mutations and to assess the nature of tumor cell evolution in DIPGs. ”These driver mutations are essential to begin and to sustain tumor formation, found a research team led by Javad Nazarian, PhD, MSC. Not only were H3K27M mutations ubiquitous in all samples studied, the driver mutation maintained partnerships with other mutations as DIPG tumors spread throughout children’s developing brains. The pivotal research expanded the field’s knowledge about how DIPG tumors evolve. While there is currently no effective treatment for DIPG, now there are a growing number of genomic targets for future therapeutics. 

Research at a Glance - Spatial and temporal homogeneity of driver mutations in DIPG (Full article)

Another study led by neuro-oncologist Eugene Hwang, MD, reported the most comprehensive phenotypic analyses comparing multiple sites in a young girl’s primary and distant tumors. All tumor sites stained positively for the H3K27TM mutation, which may hint at overall lower survival rate. 

Research at a Glance - Histological and molecular analysis of a progressive diffuse intrinsic pontine glioma: A case report (Full article)

Children’s National researchers have showed and identified tumor driver mutations and obligate partner mutations in DIPG. They are examining what happens downstream from the histone mutation - changes in the genome that indicate locations they can target in their path toward personalized medicine. The value of that genomic knowledge is akin to emergency responders being told the specific house where their help is needed, rather than a ZIP code or city name.

Research at a Glance - Clinicopathology of DIPG and its redefined genomic and epigenomic landscape