BTFC 2 of 2: Global Alliance to Establish a CSF-based Liquid Biopsy Platform for Brain Tumors
Award: $100,000 (awarded 2025)
Principal Investigator: Ching Lau, MD, PhD, Connecticut Children’s Medical Center
Funding Partners: Brain Tumor Funders’ Collaborative
Intracranial germ cell tumors (IGCTs) are rare brain tumors that primarily affect children, adolescents, and young adults. While some subtypes respond well to treatment, others require more aggressive therapy that can cause lifelong side effects. The most critical challenge in caring for these patients is accurate diagnosis, specifically, determining the exact tumor subtype so clinicians can select the safest and most effective treatment.
Today, diagnosis often requires surgical biopsy of tumors located deep in the brain, a procedure that can be risky or impossible for many patients. Existing blood and cerebrospinal fluid (CSF) biomarkers are limited, frequently inconclusive, and unable to reliably distinguish between IGCT subtypes. As a result, children may receive overly intensive treatment or insufficient therapy based on incomplete information.
This project seeks to transform that paradigm by developing a minimally invasive, CSF-based liquid biopsy platform using advanced DNA methylation profiling. Brain tumors shed DNA into the CSF, which can be safely collected through lumbar puncture. By applying a highly sensitive enzymatic methylation sequencing (EM-seq) approach, this platform can analyze tumor-specific DNA using extremely small amounts of CSF, thereby eliminating the need for surgical biopsy in many cases.
To overcome the rarity of IGCTs and ensure scientific rigor, this initiative has formed a global alliance of more than 20 leading institutions across North America, Europe, Asia, and Australia. Together, they will assemble and analyze approximately 400 CSF samples, creating the largest and most comprehensive IGCT liquid biopsy dataset ever assembled. The result will be a validated diagnostic and monitoring tool with the potential to redefine how rare pediatric brain tumors are diagnosed and monitored over time.
