BTFC 1 of 2: Maximizing Detection of Childhood Brain Tumors in Biofluids
Award: $100,000 (awarded 2025)
Principal Investigator: Dr. Paul Northcott, St. Jude’s Children’s Research Hospital
Funding Partners: Brain Tumor Funders’ Collaborative
Current clinical practice to monitor embryonal pediatric brain tumors, including medulloblastoma cancer relies onrepeated medical imaging procedures that often require anesthesia, cause significant discomfort, and provoke considerable anxiety for children and their families. Even with frequent scans, early tumor relapse can be missed, delaying intervention when timely action is most critical. A powerful new approach, known as a liquid biopsy, analyzes fragments of tumor DNA (circulating tumor DNA, or ctDNA) found in body fluids. While brain tumors shed little ctDNA into the bloodstream, cerebrospinal fluid (CSF) which surrounds the brain and spinal cord, contains much higher concentrations, making it an ideal window into disease activity. However, current methods for detecting and interpreting ctDNA in CSF are not yet sensitive enough for routine clinical use, and little is understood why some children fail to respond to treatment or relapse.
This project seeks to change that. By applying groundbreaking deep whole-genome sequencing and advanced machine-learning analytics to more than 3,000 CSF samples collected from major St. Jude clinical trials, the team will dramatically enhance the sensitivity of ctDNA detection and provide an unprecedented view of how pediatric brain tumors evolve during treatment. Because CSF can be collected at diagnosis, throughout therapy, and at relapse, these liquid biopsies create a unique opportunity to track tumor behavior in real time and uncover the genetic mechanisms that drive resistance and recurrence. Together, these innovations will establish a new, clinically actionable framework for early relapse detection, more precise treatment monitoring, and the discovery of therapeutic targets. This work has the potential to fundamentally transform care for children facing the deadliest brain tumors moving the field closer to truly curative therapies.
