Asaf Maoz, MD, on Li-Fraumeni Syndrome: Multimodality Screening Program

Our study evaluated the use of whole-body MRI for individuals with Li-Fraumeni syndrome. Li-Fraumeni syndrome is a cancer predisposition syndrome with a very high risk of cancer, which in some studies has been shown to be up to 100%, and the cancer risk is across different organs and different histologies. A multimodal surveillance program is recommended for individuals with Li-Fraumeni syndrome and that includes a whole-body MRI every year. This is now included in guidelines including NCCN and ACR. But insurance coverage for whole-body MRI has been non-uniform, especially in the United States. Our study was designed to evaluate the ability of whole-body MRI to detect asymptomatic, potentially curable cancers among individuals with Li-Fraumeni syndrome and to measure the proportion of cancers that were diagnosed on whole-body MRI versus other screening modalities. Our study included 162 adult and pediatric patients that were followed prospectively. Over 70% had three or more whole-body MRIs. In our study, whole-body MRI detected 15 cancers, 86% of which were localized cancers that were treated with curative disease. And among 12 participants who had those 13 cancers, 10 were alive at data cut-off. These cancers included three lung cancers and four abdominal or pelvic sarcomas. Twenty-two cancers in our study were diagnosed with methods that were not whole-body MRI and those included some that are in the typical Li-Fraumeni spectrum like sarcomas, one lung cancer, and adrenocortical carcinoma. But many of those cancers were those that we would not expect to find with the whole-body MRI and were most commonly found because of symptoms. So our study shows that whole-body MRI is very important for the detection of asymptomatic cancers in individuals with Li-Fraumeni syndrome, and we think it supports its inclusion in guidelines and should be uniformly covered in the United States and elsewhere. It also shows that a multimodal surveillance program is critical for individuals with Li-Fraumeni syndrome and that we shouldn't over-rely on whole-body MRI and continue with the comprehensive screening program that we have in place, including being very keenly aware of symptoms and what patients are telling us. Our study shows that whole-body MRI for individuals with Li-Fraumeni syndrome contributes substantially to the detection of asymptomatic potentially curable cancers, and we think it should be covered uniformly by insurance and it supports the inclusion of whole-body MRI in guidelines. Our study also shows that it's critical to continue with multimodal surveillance, including other tests and being very aware of symptoms and what patients report. Lastly, our data show that further research in the early detection and interception of cancer for individuals with Li-Fraumeni is critical.