Whole-body MRI screening for Li-Fraumeni syndrome: experience from an Irish centre

Introduction

Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome with a lifetime cancer risk of 70%–100%. Annual whole-body MRI (WB-MRI) surveillance is internationally recommended, but implementation is often limited by resource constraints. In our centre, surveillance is only available when philanthropically funded. We reviewed our experience in a national referral centre with centralised care.

Methods

We retrospectively reviewed electronic records (2018–2025) for all LFS patients undergoing WB-MRI surveillance. Scans were considered actionable if new, enlarging or indeterminate lesions required further investigation. Data were analysed descriptively using R Studio.

Results

24 patients were included (75% female), with a median age of 44.5 years. Median age at LFS diagnosis was 38.5 years and 63% had a prior cancer history. The mean interval between WB-MRIs was 21.9 months, and the mean time from LFS diagnosis to first scan was 31.9 months. Subsequent scan intervals varied (12.9–20.4 months).

Actionable findings occurred in 4/24 patients (17%): two metastatic breast cancers and two primary sarcomas. The overall detection rate was 6% (4/67 scans), with one interval cancer. Incidental findings were reported in 50% of first scans, prompting further investigations in 42%, but were less frequent in subsequent scans. Performance metrics showed 80% sensitivity, 91.9% specificity, 44.4% positive predictive value and 98.3% negative predictive value.

Conclusions

WB-MRI is an effective surveillance tool for LFS, but access remains limited in Ireland. Expanding MRI capacity, introducing public funding and exploring non-invasive biomarkers could improve surveillance and patient outcomes.