Li-Fraumeni Syndrome: Imaging Features and Guidelines

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant familial cancer syndrome caused by germline mutations of the tumor protein p53 gene (TP53), which encodes the p53 transcription factor, also known as the "guardian of the genome." The most common types of cancer found in families with LFS include sarcomas, leukemia, breast malignancies, brain tumors, and adrenocortical cancers. Osteosarcoma and rhabdomyosarcoma are the most common sarcomas. Patients with LFS are at increased risk of developing early-onset gastric and colon cancers. They are also at increased risk for several other cancers involving the thyroid, lungs, ovaries, and skin. The lifetime risk of cancer in individuals with LFS is greater than 70% in males and greater than 90% in females. Some patients with LFS develop multiple primary cancers during their lifetime, and guidelines have been established for screening these patients. Whole-body MRI is the preferred modality for annual screening of these patients. The management guidelines for patients with LFS vary, as these individuals are more susceptible to developing radiation-induced cancers-for example, women with LFS and breast cancer are treated with total mastectomy instead of lumpectomy with radiation to the breast. The authors review the role of imaging, imaging guidelines, and imaging features of tumors in the setting of LFS. ^©RSNA, 2024 Supplemental material is available for this article.