Thanks to a gift from the Lyonhearted Foundation of southern California, Dr. Mark Souweidane and Dr. Uday Maachani will initiate a new research project in the Children’s Brain Tumor Project laboratory. The team expects the new investigation to validate the use of cell-free tumor DNA (cf-DNA) as a biomarker of the disease burden in children with diffuse intrinsic pontine glioma (DIPG).
DIPG is an infiltrative tumor, difficult to image and measure and impossible to remove surgically. Researchers have long been frustrated by their inability to retrieve tumor tissue and genetic markers for study. This new project aims to capture elusive cf-DNA as a means of establishing an individual tumor’s DNA fingerprint and identify tumor-specific variations that may help point researchers toward more effective treatments.
Cell-free DNA, which is shed by cancer cells, has already been shown to be a rich source of tumor biomarkers, or substances that indicate the presence or progression of disease. For most cancers, cf-DNA can be found in the bloodstream, where it can be easily collected for study. Brain tumors, however, typically do not shed cf-DNA into the bloodstream, creating yet another roadblock for researchers in need of these biomarkers.
In this project, Dr. Souweidane’s group will study samples of cerebrospinal fluid (CSF) collected from children with DIPG. CSF is the protective fluid that bathes the brain and spine, and it is a good source of cf-DNA from brain tumors. Researchers will extract the DNA from the CSF and perform whole-exome sequencing and targeted sequencing to identify tumor-specific genetic variations.
Dr. Souweidane’s team, working in collaboration with a group at Memorial Sloan Kettering Cancer Center, hopes to establish a reliable way to create a genetic fingerprint of DIPG tumors, leading to the development of new treatments for this uniformly fatal disease. They are grateful to the Lyonhearted Foundation for providing the means of conducting the study.
The Lyonhearted Foundation was founded in memory of Jason Lyon, who was a high school junior when he was diagnosed with DIPG. After his death a few months later, his family established the foundation to provide help and hope to children with cancer, and to provide funding for research to spare future children a hopeless diagnosis. They became supporters of the Children’s Brain Tumor Project in 2016, and continue to provide generous funding for DIPG research here.
