We report recurrent somatic structural variations (SVs) involving long noncoding RNA (lncRNA) CCDC26 in 13% of Diffuse Intrinsic Pontine Glioma (DIPG) patients. We validate our findings using whole genome sequencing data from two independent patient cohorts. CCDC26 SVs cause increased expression of CCDC26 gene in patients. In addition, CCDC26 expression is associated with elevated expression of MYC and proliferation signature. Our findings identify CCDC26 as a novel significantly mutated gene in DIPG and highlight the importance of structural variations in pediatric brain cancer.
We thank members of Children’s Brain Tumor Network (CBTN) (cbtn.org) for their support of open access, biospecimen driven research.