Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.
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BACKGROUND: Li Fraumeni syndrome (LFS), a rare genetic condition, poses a significant health impact due to the ∼75%-90% lifetime risk of developing cancer in affected individuals. Due to the rarity of this disease, little is known about the outcomes, clinical characteristics, and treatments of cancer for patients with LFS. PATIENTS AND METHODS: We present a retrospective dataset of 57 patients from 41 families diagnosed with LFS between 1996 and 2021, with or without a concurrent cancer diagnosis, who were managed at a single cancer institution in the UK. We present the cancer types that were observed in this group, the age at cancer diagnosis, and treatment modalities for those affected with cancer, either before or after having a TP53 test to establish their LFS diagnosis. RESULTS: A total of 24 individuals underwent predictive testing, of which 13 were not diagnosed with cancer during the observation period. The other 33 individuals underwent diagnostic testing and had at least one cancer diagnosis each. Overall, there were 92 distinct cancer diagnoses in 44 participants, the majority being breast cancers and sarcomas. Patients were most likely to be diagnosed with LFS between the ages of 30 and 40 years. Some 75% of all cancer diagnoses were diagnosed at an early stage [TNM (tumour-node-metastasis) stage 0-2], and 19% had a recurrence, despite the early diagnosis. In total, 42% of individuals with LFS died as a result of a cancer diagnosis in our dataset, but the overall survival could not be calculated due to the short follow-up period (median 6 years, IQR 2-11 years). CONCLUSIONS: Individuals with LFS have a high risk of cancer, cancer recurrence, and death. Larger multicentric international studies focusing on developing cohorts of specific diseases are needed to better understand disease patterns related to different pathogenic TP53 variants and inform which patients with LFS may need a more targeted and aggressive surveillance protocol.