Orthopedic manifestations of Li-Fraumeni syndrome:Prevention and treatment of a polymorphic spectrum of malignancies  

作　　者：Giulia Cenci Valerio Pace 

机构地区：[1]Department of Trauma and Orthopedics,Azienda Ospedaliera Santa Maria Hospital,Terni 05100,Italy [2]Department of Trauma and Orthopedics,AOSP Terni,Terni 05100,Italy

出　　处：《World Journal of Clinical Cases》2024年第26期5839-5844,共6页世界临床病例杂志

摘　　要：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.

关 键 词：Li-Fraumeni syndrome Tumor protein P53 Orthopedic diseases Osteosarcoma CHONDROSARCOMA Screening Prevention 

分 类 号：R73[医药卫生—肿瘤]