JCO Precis Oncol. 2025 Oct;9:e2500264. doi: 10.1200/PO-25-00264. Epub 2025 Oct 23.
ABSTRACT
PURPOSE: Individuals with Li-Fraumeni syndrome (LFS) are at risk of developing cancer in multiple organs and therefore require a multimodal screening program. We assessed the performance of annual whole-body noncontrast magnetic resonance imaging (WBMRI) in early cancer detection for individuals with LFS.
METHODS: Individuals with a germline pathogenic or likely pathogenic variant in the TP53 gene (defined as LFS) and without cancer diagnosed or treated in the preceding 6 months were eligible to undergo annual noncontrast WBMRI. Clinical findings on WBMRI, follow-up studies, biopsies, and cancer incidence were prospectively assessed.
RESULTS: One hundred sixty-two participants with LFS (127 adult, 35 pediatric) underwent 477 WBMRIs; 119 (73%) underwent three or more. The median age at enrollment was 37 years; 75% of participants were female. Classic or Chompret diagnostic criteria for LFS were met for 68.5% of participants. Follow-up studies for findings on WBMRI were pursued for 55.6% of participants. Biopsies were performed in 18% of participants; 39.5% of 38 biopsies confirmed a cancer diagnosis. The rate of follow-up interventions decreased with consecutive WBMRIs. During the study period, of 37 cancers diagnosed in 33 participants, 15 (40.5%) were diagnosed by WBMRI; 86% (13 of 15) were asymptomatic, localized cancers treated with curative intent. The 22 cancers not diagnosed on WBMRI included five sarcomas; one each of adrenocortical, lung, thyroid, and renal cell carcinomas; and 13 cancers that WBMRI would not be expected to detect.
CONCLUSION: Annual WBMRI contributes substantially to the detection of asymptomatic localized cancers among individuals with LFS and is best used in conjunction with a multimodality approach endorsed by LFS guidelines. Our study highlights the need for further research to enhance early detection and interception of cancer in LFS.
PMID:41129770 | DOI:10.1200/PO-25-00264
