Liquid Biopsy Imaging May Show Benefit in Li-Fraumeni Syndrome Screening

In a conversation with CancerNetwork^® at the 7th International Li-Fraumeni Syndrome (LFS) Association Symposium, Suzanne P. MacFarland, MD, spoke about her presentation focusing on the use of liquid biopsy as a detection tool for patients with LFS. In her presentation, MacFarland discussed the need to verify the potential benefit of this modality among a larger group of patients as part of a clinical trial.

According to MacFarland, an attending physician in the Division of Oncology and Cancer Predisposition Program at Children’s Hospital of Philadelphia, previous work has demonstrated the ability of liquid biopsy sampling to detect cancer up to a year in advance of the disease appearing clinically. She stated that further testing this strategy may show benefits for detecting cancer early in patients with LFS as well as across the board for those with TP53-mutated genes.

Transcript:

For a syndrome like Li-Fraumeni syndrome, where there’s such a high risk of cancer, our ability to help patients survive for longer and improve morbidity and mortality is to come up with a way to catch cancer earlier. Right now, we do that mainly through imaging. Liquid biopsy is a way to find cancer DNA in the blood, essentially, and detect it before it’s symptomatic and before we can see it on scans. There are some excellent studies of liquid biopsy to show that it can pick up cancer up to a year in advance of it showing up clinically, but the trial is to move that [effort] into a larger group of patients and see if we can do that clinically.

There is a need right now to develop this kind of test and test it within this group of patients. I hope that [colleagues] take away that a cell-free DNA liquid biopsy study would be beneficial, not just for this rare disease—for Li-Fraumeni syndrome—but because TP53 is the most commonly mutated gene in cancer, [it may be] beneficial across the board for detecting cancers early. Studying rare diseases is difficult, and our hope is that we can fund a clinical trial to help this vulnerable population.

Reference

MacFarland S. Liquid biopsy in Li-Fraumeni syndrome: Moving towards clinical trial. Presented at the 7th International Li-Fraumeni Syndrome (LFS) Association Symposium; October 19-22, 2024; Philadelphia, PA.