Rapid Molecular Testing of High-Risk Pediatric Brain Tumors

Award: $70,000 over one year
Principal Investigators: Jack Wadden, PhD, Carl Koschmann, MD
Funding Partner: Catching Up With Jack

Pediatric high-grade glioma (pHGG) and Diffuse Intrinsic Pontine Glioma (DIPG) are devastating childhood brain tumors with few patients surviving greater than 2 years. Over the last 2 decades the field has made great strides in uncovering the recurrent genetic drivers of these tumors through increasing use of molecular diagnostics (eg, DNA sequencing of tumor tissue). Sequencing can provide a more accurate diagnosis and prognosis and has become increasingly important for proper disease management and clinical trial enrollment for targeted therapies. Unfortunately, however, sequencing is far from optimized for clinical utility as turnaround time for tumor sequencing is typically 2 – 4 weeks and rarely available prior to radiotherapy or trial enrollment for agents given concurrently with radiotherapy. Furthermore, due to the risk of morbidity/mortality from repeat biopsy to track tumor mutations, it is not safe or feasible. To address these issues, this study takes an interdisciplinary approach to leverage a highly sensitive amplification technique currently being used in rapid COVID-19 diagnostics (LAMP) to enable rapid, low cost and low complexity detection of tumor mutations directly from the patient CSF and plasma. The outcome, if successful, will enable clinicians to more accurately and rapidly diagnose specific tumor mutations in order to recommend customized treatment options for the child’s specific tumor at the time of diagnosis and throughout the patient’s tumor journey, with little or no increased risk from complications due to invasive biopsies.