Next Generation Sequencing of Diffuse Intrinsic Pontine Glioma Samples

Diffuse intrinsic pontine glioma (DIPG) is an extremely rare (~350 cases/year) and universally fatal childhood brain cancer. Standard clinical strategies such as chemotherapy and radiotherapy show only transient improvement in patient condition and result in negligible change in survival, DIPG remains at below 1% survival after 5 years. Prioritization of panobinostat through previous cooperative work resulted in a phase 1 clinical trial. Nonetheless, new therapies for DIPG must be identified to further dramatically change the statistics for DIPG. To identify novel therapy strategies for DIPG, we performed whole exome(16 new samples, 22 previously published samples, 38 in total with 26 matched normal) and RNA deep sequencing (17 new samples, 11 previously published samples) on a cohort of new patient samples. Sequencing results aid in the identification of recurrent mutations/variations and endotypic expression profiling to identify new therapeutic and treatment strategies for DIPG. ]]> Inclusion: diagnosis of diffuse intrinsic pontine glioma, agreement to provide samples for DNA and RNA sequencing Exclusion: none ]]> This sequencing study follows a previous worldwide collaborative effort to identify a promising therapy for DIPG, and to develop a clinical trial concept for DIPG. This collaboration resulted in prioritization of panobinostat as a promising therapy, which has been moved into a phase 1 clinical trial. The research group has continued exploring new potential targets and therapeutics for DIPG, which resulted in this extensive sequencing study.]]>