{"title":"Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies.","authors":"Giulia Cenci,Valerio Pace","doi":"10.12998/wjcc.v12.i26.5839","DOIUrl":null,"url":null,"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.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"World Journal of Clinical Cases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.12998/wjcc.v12.i26.5839","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍:
The World Journal of Clinical Cases (WJCC) is a high-quality, peer reviewed, open-access journal. The primary task of WJCC is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of clinical cases. In order to promote productive academic communication, the peer review process for the WJCC is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJCC are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in clinical cases.