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ORIGINAL RESEARCH article

Front. Oncol.
Sec. Cancer Genetics
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1415636
This article is part of the Research Topic Women in Cancer Genetics Vol III: 2023 View all 4 articles

Characterization of Sarcoma Topography in Li-Fraumeni Syndrome

Provisionally accepted
Karin J. Brockman Karin J. Brockman 1,2Mone't Thompson Mone't Thompson 1Lisa Mirabello Lisa Mirabello 1Ashkan Malayeri Ashkan Malayeri 3Sharon A. Savage Sharon A. Savage 1Jessica N. Hatton Jessica N. Hatton 1Payal P. Khincha Payal P. Khincha 1*
  • 1 National Cancer Institute Bethesda, Bethesda, United States
  • 2 Walter Reed National Military Medical Center, Bethesda, Maryland, United States
  • 3 National Institutes of Health (NIH), Bethesda, Maryland, United States

The final, formatted version of the article will be published soon.

    Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome primarily caused by germline TP53 pathogenic/likely pathogenic (P/LP) variants. Soft tissue and bone sarcomas are among the most frequently occurring of the many cancer types LFS confers risk for. Annual cancer screening recommendations for individuals with LFS are centered around whole-body MRI (wbMRI), the interpretation of which can be challenging. This study aims to characterize common sarcoma topography from clinically and genetically ascertained cohorts of germline TP53 variant-carriers, namely the National Cancer Institute’s LFS longitudinal cohort study (NCI-LFS), the NCI Genetic Epidemiology of Osteosarcoma (NCI-GEO) study, and the germline TP53 Database. Data was aggregated for a total of 160 sarcomas that had detailed topography available. Abdominal sarcomas and extremity osteosarcomas were among the most frequent locations of sarcomas. Chi-squared analyses showed no statistical differences in sarcoma location based on age (pediatric vs adult) or sex (male vs female). The study also highlights the diagnostic difficulties of sarcomas by presenting a case series in which each case presents an imaging and/or topographical challenge. Though LFS-related sarcomas frequently occur in expected locations such as the extremities, they also occur in less typical sites, leading to difficulties in discerning between differential diagnoses. Prospective collection of detailed cancer topography in individuals with LFS will further aid in recommendations for radiologic interpretation and personalized screening in individuals with LFS.

    Keywords: Li-Fraumeni Syndrome, TP53, Sarcoma, Whole body MRI, screening

    Received: 10 Apr 2024; Accepted: 14 Oct 2024.

    Copyright: © 2024 Brockman, Thompson, Mirabello, Malayeri, Savage, Hatton and Khincha. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Payal P. Khincha, National Cancer Institute Bethesda, Bethesda, United States

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