Cancer Screening in Li-Fraumeni Syndrome

Li-Fraumeni syndrome is a highly penetrant cancer predisposition syndrome that is being more frequently detected because of increased awareness and genetic testing for germline mutations in the TP53 tumor suppressor gene (OMIM *191170). Management of individuals with Li-Fraumeni syndrome is one of modern medicine's most challenging dilemmas. How do we alter the natural history associated with a known genetic lesion? The lifetime probability of cancer in those with Li-Fraumeni syndrome is nearly 100% in women and 80% in men, and thus cancer screening may seem appealing for earlier detection and management. Nevertheless, the complexities of this syndrome may limit the effectiveness of screening. The diverse spectrum of cancers would require an exhaustive screening program, and the aggressiveness of some of the cancers may justify short intervals between examinations. Whole-body magnetic resonance imaging (MRI) offers an attractive radiation-free imaging option with a high resolution for many of the Li-Fraumeni–spectrum tumors. In this issue of JAMA Oncology, the results of 2 important studies are presented on the use of whole-body MRI as a cancer screening technique in Li-Fraumeni syndrome.

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