Our study of RNA splicing across pediatric brain tumors is now published in Neuro-Oncology Pediatrics!

We are excited to share the publication of our latest study, “Alternative splicing in pediatric central nervous system tumors highlights oncofetal candidate CLK1 exon 4,” now published in Neuro-Oncology Pediatrics. Led by co-first authors Dr. Ammar Naqvi and Dr. Patricia Sullivan, this work represents years of collaborative effort across institutions and builds on our ongoing mission to understand the molecular programs that shape pediatric brain tumors.

In this study, we analyzed RNA splicing across 729 pediatric CNS tumors and found that different tumor types use distinct splicing patterns, allowing us to identify groups of tumors defined by how their RNA is spliced. We highlight a candidate oncofetal splicing event in CLK1, involving inclusion of exon 4, that may represent a potential therapeutic vulnerability. Importantly, exon-level regulation of CLK1 was linked to prognosis in certain aggressive tumors, suggesting that specific splicing events may influence disease behavior and treatment strategies beyond traditional factors such as age, molecular subtype, or extent of surgical resection.

Congratulations to the outstanding team that made this study possible, and to the many collaborators spanning our time at Children’s Hospital of Philadelphia and now at Children’s National Hospital.

Special thanks to the patients and families, the Children’s Brain Tumor Network and Pediatric Neuro-Oncology Consortium for creating this dataset, the anonymous donors to Children’s National Brain Tumor Institute, Gabriella Miller Kids First Data Resource Center for supporting us with cloud credits, and every member of the team whose dedication made this possible.

Read the Children’s National press release here.