Baseline cancer screening findings from the NCI Li-Fraumeni syndrome study.

Abstract

1526Background: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome primarily caused by germline TP53 mutations. LFS is associated with very high lifetime cancer risk and early onset of a wide range of cancers. Cancer surveillance is challenging given the tumor spectrum, although an MRI-based regimen has shown promise. An important aim of NCI’s LFS cohort study (NCT01443468) is to establish an effective cancer-screening regimen. Methods: Individuals with a germline TP53 mutation were eligible for screening with annual rapid sequence whole-body (WB) MRI, brain MRI, and breast MRI if applicable, colonoscopy every 3 years, and blood tests every 4 months; children < 17 years also have abdominal ultrasound every 4 months. Here we report the findings at baseline screening of the first 100 participants. Results: Twenty of the 100 WB MRIs had abnormalities requiring additional imaging. Subsequent biopsies in 3 individuals led to the diagnosis of 1 stage Ib lung cancer and 1 oste...