1195P - Whole-body magnetic resonance imaging (WB-MRI) screening in Li Fraumeni syndrome for early cancer diagnosis: The SIGNIFIED project

Background

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant condition, caused by an alteration in the TP53 gene. Individuals with LFS are susceptible to developing a wide range of malignancies. National and international guidelines recommend annual WB-MRI scan for screening for cancer; however, WB-MRI is not yet implemented in this setting worldwide or in the UK. SIGNIFIED is a cost-effectiveness and implementation project that will assess the value of screening WB-MRI in LFS.

Methods

Individuals with LFS, with no cancer diagnosis in the past 5 years, were scanned using two WB-MRI, 12 months apart. Diffusion-weighted MRI images were acquired from vertex to feet. Incidental findings were further investigated and discussed in a specialist MDT meeting.

Results

Fifty-four asymptomatic individuals with LFS were recruited between May 2022 and July 2023 from Cancer Genetic Units across the United Kingdom. 40 females (74%) and 14 males (26%) were enrolled. The median age at recruitment was 42 years (range 18-70). Following 1^st scan performed in 54 individuals, 16.6% of patients had a suspicious lesion that was biopsied/excised (N=9), and less than half (44%, N=4) had a confirmed cancer. Following 2^nd scan performed in 44 individuals, 13.6% of patients had a suspicious lesion that was biopsied/excised (N=6) and in 83% of cases (N=5), a cancer diagnosis was confirmed. There was increased confidence in benignity when a comparator scan was available. In total, 9 cancers were detected and 66% (N=6) were diagnosed at stages 0-2 and underwent curative treatment. A further stage 3 pancreatic cancer (T4N0M0) was diagnosed and the patient received peri-operative chemotherapy and surgery with curative intent.

Conclusions

Overall, 9 cancers in 54 individuals were diagnosed with the help of WB-MRI. The rate of cancers detected in this cohort was higher than expected in a general population, consistent with the known risk of cancers in the LFS population. WB-MRI is a valuable and useful radiological tool for the detection of early cancers in LFS and our data support guidelines that it should be implemented as a regular screening test for this population. A health economics analysis is currently ongoing.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.

Funding

Small Business Research Initiative (SBRI) Healthcare.

Disclosure

All authors have declared no conflicts of interest.