Cenci G, Pace V. Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies. World J Clin Cases 2024; 12(26): 5839-5844 [PMID: 39286379 DOI: 10.12998/wjcc.v12.i26.5839]
Corresponding Author of This Article
Valerio Pace, MBBS, MSc, Researcher, Senior Research Fellow, Surgeon, Department of Trauma and Orthopedics, AOSP Terni, Via Joannuccio, Terni 05100, Italy. valeriopace@doctors.org.uk
Research Domain of This Article
Orthopedics
Article-Type of This Article
Editorial
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Sep 16, 2024; 12(26): 5839-5844 Published online Sep 16, 2024. doi: 10.12998/wjcc.v12.i26.5839
Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies
Giulia Cenci, Valerio Pace
Giulia Cenci, Department of Trauma and Orthopedics, Azienda Ospedaliera Santa Maria Hospital, Terni 05100, Italy
Valerio Pace, Department of Trauma and Orthopedics, AOSP Terni, Terni 05100, Italy
Author contributions: Pace V received the editorial invitation; Cenci G and Pace V designed the article, performed research and literature review, analyzed data, wrote and finalized the review.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Valerio Pace, MBBS, MSc, Researcher, Senior Research Fellow, Surgeon, Department of Trauma and Orthopedics, AOSP Terni, Via Joannuccio, Terni 05100, Italy. valeriopace@doctors.org.uk
Received: March 15, 2024 Revised: April 25, 2024 Accepted: May 22, 2024 Published online: September 16, 2024 Processing time: 129 Days and 9.9 Hours
Abstract
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer predisposition syndrome characterized by a heightened risk of developing various malignancies at an early age. Emerging evidence suggests a correlation between LFS and orthopedic manifestations, underscoring the importance of orthopedic screening in individuals with this syndrome. Pediatric cancer is rare. It is estimated that more than 10%-15% of tumors are secondary to a pathogenic variant in a cancer predisposition gene. More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified. LFS is one of those who have been most widely described. Patients with this syndrome present a high risk of developing one or more tumors. Its knowledge enables the establishment of a follow-up protocol for the patient and affected family members, facilitating early detection of new tumors and reducing tumor and treatment-related morbidity and mortality. The primary objective of this invited editorial article is to provide a thorough review of the existing knowledge of LFS and its polymorphic spectrum of related malignancies, with a focus on aspects directly linked to orthopedic manifestations. Another objective is to offer an update on the most modern prevention, treatment and follow up guidelines that could be useful for the physicians dealing with this cohort of patients.
Core Tip: Modern screening approaches, including comprehensive genetic testing and advanced imaging modalities, offer promising avenues for early detection and intervention, ultimately improving outcomes in individuals with Li-Fraumeni syndrome (LFS). We advocate the need for internationally recognized and standardized guidelines for diagnosis, treatment and follow up of LFS and the need to form an international multidisciplinary network able to provide the highest level of expertise.
