Suzanne MacFarland, MD

Funded by the Dick Vitale Pediatric Cancer Research Fund

Patients with Li-Fraumeni Syndrome (LFS) are almost guaranteed to develop cancer in their lifetime. This includes a diagnosis of cancer in up to one in five children with LFS. Cancer screening can detect cancers when they are smaller and may respond better to treatment. This screening includes scans and physical exams. We know that screening people with LFS for cancer means that they, on average, live longer. However, screening is also stressful and difficult for children and their parents. Screening can also lead to things like biopsies that were not needed.

Blood tests to detect cancer earlier, called liquid biopsies, can find cancer early, before someone is showing symptoms. This blood test could let us find cancer earlier in LFS. This blood test may also be better than a scan alone in finding a new cancer. This is especially important in children with LFS, who have a lot of stress and anxiety with cancer screening. We will study this blood test in a large national trial to understand if it can pick up cancer earlier in people with LFS. It is important that children are included in this study because they have very high cancer risk. Before this trial can occur, we will conduct a smaller study of this blood test in children. This will make sure that we can do a larger study without a lot of stress or cost to people participating.