%0 Journal Article
%A Achatz, Maria Isabel
%A Villani, Anita
%A Bertuch, Alison A
%A Bougeard, Gaëlle
%A Chang, Vivian Y
%A Doria, Andrea S
%A Gallinger, Bailey
%A Godley, Lucy A
%A Greer, Mary-Louise C
%A Kamihara, Junne
%A Khincha, Payal P
%A Kohlmann, Wendy K
%A Kratz, Christian P
%A MacFarland, Suzanne P
%A Maese, Luke D
%A Maxwell, Kara N
%A Mitchell, Sarah G
%A Nakano, Yoshiko
%A Pfister, Stefan
%A Wasserman, Jonathan D
%A Woodward, Emma R
%A Garber, Judy E
%A Malkin, David
%T Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
%J Clinical cancer research
%V 31
%N 10
%@ 1078-0432
%C Philadelphia, Pa. [u.a.]
%I AACR
%M DKFZ-2025-00772
%P 1831-1840
%D 2025
%Z 2025 May 15;31(10):1831-1840 / Perspective
%X Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition condition characterized by a high lifetime risk for a wide spectrum of malignancies associated with germline pathogenic/likely pathogenic (P/LP) variants in the TP53 tumor suppressor gene. Secondary malignant neoplasms are particularly common. Early cancer detection through surveillance enables early intervention and leads to improved clinical outcomes with reduced tumor-related mortality and treatment-related morbidity. Since the 2017 publication of LFS tumor surveillance guidelines from the inaugural AACR Childhood Cancer Predisposition Workshop, understanding the genotype:phenotype relationships in LFS have evolved, and adaptations of the guidelines have been implemented in institutions worldwide. The 'Toronto Protocol' remains the current standard for life-long surveillance; however, as outlined in this Perspective, modifications should be considered as to the use of certain modalities to target organs in an age-dependent manner. The Working Group's recommendations have also been extended to include a more detailed outline for surveillance in the adult TP53 P/LP variant carrier population based on the recognition that early education of both practitioners and patients on what to expect after the transition from childhood/adolescence to young adulthood is important in preparing them for changes in surveillance strategies. In this perspective, we provide an up-to-date clinical overview of LFS, and present our updated consensus tumor surveillance recommendations from the 2023 AACR Childhood Cancer Predisposition Workshop.
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40072304
%R 10.1158/1078-0432.CCR-24-3301
%U https://inrepo02.dkfz.de/record/300326