Several research groups from around the world that have conducted cancer screening among patients with Li-Fraumeni syndrome and a germline TP53 mutation have recently reported on their observations. Specifically, the National Cancer Institute group demonstrated that screening inclusive of rapid total body MRI detected cancers at an early stage,1 similar to findings published through other recent smaller studies.2,3 Collectively, these findings demonstrated the extensive screening advised for many Li-Fraumeni patients is feasible; however, some of this screening may lead to false positives (i.e., a positive finding on a cancer screening test that ends up not being cancer) as well as cancer overdiagnosis.4 Through a recent effort to look at whole body MRI in Li-Fraumeni syndrome patients across several previously published studies, data suggested that this screening test may be clinically useful and an important part of cancer risk management. Additionally, we recently published an article focused on ICARE participants with a germline TP53 mutation, who were identified based on a multi-gene panel test.6 We found that many of these individuals did not have a family history that would identify them as having Li-Fraumeni syndrome, which suggests that cancer risk in some of these ‘non-characteristic’ families may not be as high as those with a classic family history of Li-Fraumeni syndrome. This brings up the question about what screening is most appropriate for them. Overall, these articles all highlight the need to generate more evidence to refine screening practices among individuals with Li-Fraumeni Syndrome.
1Mai et al. JAMA Oncol. 2017 Dec 1;3(12):1640-1645. PMID:28772286.
2Ballinger et al. JAMA Oncol. 2017 Dec 1;3(12):1735-1736. PMID:28772290.
3Ruijs et al. JAMA Oncol. 2017 Dec 1;3(12):1733-1734. PMID:28772294.
4Asdahl PH, Ojha RP, Hasle H. JAMA Oncol. 2017 Dec 1;3(12):1645-1646. PMID:28772307.
5Ballinger et al. JAMA Oncol. 2017 Dec 1;3(12):1634-1639.PMID:28772291.
6Pal et al. South Med J. 2017 Oct;110(10):643-648. PMID:28973705.