Data from Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome

• DOI: 10.1158/1940-6207.c.6772415.v2
• Publication Date: 2023-09-01T13:20:28Z
• Authors: Laura A.T. Kagami; Yun K. Du; Conrad J. Fernandes; Anh N. Le; Madeline Good; Melani M. Duvall; Sarah E. Baldino; Jacquelyn Powers; Kristin Zelley; Lisa J. States; Manoj C. Mathew; Bryson W. Katona; Suzanne P. MacFar...; Kara N. Maxwell
• Keywords: Pediatric cancer; Li–Fraumeni syndrome; Cancer screening

<div>Abstract<p>Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome with up to 90% lifetime risk. Cancer screening, including annual whole-body MRI (WB-MRI), recommended due known survival advantage, detection rate of 7% on initial screening. Intervention and rates subsequent screenings are unknown. Clinical data for pediatric adult patients LFS (<i>n</i> = 182) were reviewed, instances WB-MRI screening interventions based results. For each biopsy secondary imaging, as well diagnosis, analyzed comparing versus WB-MRI. Of the total cohort 182), we identified 68 50 who had undergone at least two screenings, mean 3.8 ± 1.9 (adults) 4.0 2.1 (pediatric) screenings. Findings led an imaging or invasive intervention in 38% adults 20% children. On follow up, overall lower (19%, <i>P</i> 0.0026) stable children NS). Thirteen cancers detected (7% 14% scans), both (pediatric: 4%, adult: 3%) 10%, 6%) Rates after decreased significantly between first exams remained patients. similar (3%–4% initial, 6%–10% subsequent) adults. These findings provide important counseling about outcomes.</p>Prevention Relevance:<p>The rate, burden interventions, false-positive found not understood. Our suggest that has clinical utility likely does result unnecessary patients.</p></div>