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

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.