Abstract 2237: Rates of intervention after initial versus subsequent whole-body MRI screening in Li-Fraumeni Syndrome
Authors: Du Yun K. , Fernandes Conrad , Le Anh N. , Good Madeline , Duvall Miche , Jennings Sarah , Powers Jacquelyn , Zelley Kristen , Katona Bryson W. , MacFarland Suzanne P. , Maxwell Kara N. 
Published: June 2022

Background: Yearly whole-body MRI is recommended for cancer screening in patients with the rare high risk cancer predisposition syndrome, Li-Fraumeni syndrome (LFS). This is based on data from multiple studies demonstrating an approximately 7% cancer detection rate on baseline screening. However, the rate of actionable findings and malignancies on initial versus subsequent screenings has yet to be compared in a patient cohort.

Patients and Methods: We identified 68 adult LFS patients in a single institutional cohort that received more than one full body MRI (including brain MRI). For each screening instance, findings and subsequent recommended interventions (immediate and short-term imaging, biopsy, and/or surgery) were recorded. Invasive interventions (biopsy and/or surgery) were denoted with free text describing pathology results. We analyzed findings on initial versus subsequent scans.

Results: There were 258 instances of whole-body MRI screenings performed in 68 patients (28% male, 72% female) in the cohort. The mean number of screenings per patient analyzed was 3.8±1.9 over 3.3±2.4 years. Among 68 initial screenings, 26 (38.2%) required follow-up imaging or invasive intervention. Among 190 subsequent screenings, the follow-up intervention rate was significantly lower (n=36, 18.9%, p=0.0026). Eleven screenings (5.8%) required invasive follow-up (biopsy or surgery); two (3% of patients) were from an initial screening and nine (13% of patients) were from a subsequent screening. From these interventions, we identified six total cancers in five patients amongst the cohort (7% of patients), with two cancers (3% of patients) being identified on the first screening and four (6% of patients) being identified on a subsequent screening.

Conclusion: Cancer detection rates were similar between initial and subsequent whole-body MRI screenings in LFS patients. Follow-up interventions decreased significantly on subsequent screenings compared to the initial screen. These findings may be useful in counseling of LFS patients initiating a screening program. Limitations of this study include lack of inclusion of other screening modalities in the analysis, short follow-up duration, and loss to follow-up. Further studies involving a larger cohort with longer-term follow-up are needed to fully determine the impact of long-term whole-body MRI screening in LFS.

Citation Format: Yun K. Du, Conrad Fernandes, Anh N. Le, Madeline Good, Miche Duvall, Sarah Jennings, Jacquelyn Powers, Kristen Zelley, Bryson W. Katona, Suzanne P. MacFarland, Kara N. Maxwell. Rates of intervention after initial versus subsequent whole-body MRI screening in Li-Fraumeni Syndrome [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 2237.