Hosseini Mohammad-Salar
Research Center for Integrative Medicine in Aging, Aging Research Institute, Tabriz University of Medical Sciences, Golgasht Street, Tabriz, 51666, EA, Iran.
Hematology and Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
Discov Oncol. 2024 Oct 15;15(1):561. doi: 10.1007/s12672-024-01435-w.
Li-Fraumeni syndrome is a rare yet serious hereditary cancer predisposition syndrome, marked by a significant early-life increased risk of developing cancer. Primarily caused by germline mutations in the TP53 tumor suppressor gene, Li-Fraumeni syndrome is associated with a wide range of malignancies. Clinical management of Li-Fraumeni syndrome could be challenging, especially the lifelong surveillance and follow-up of patients which requires a multidisciplinary approach. Emerging insights into the molecular and clinical basis of Li-Fraumeni syndrome, coupled with advances in genomic technologies and targeted therapies, offer promise in optimizing risk assessment, early detection, and treatment strategies tailored to the unique clinical and molecular profiles of affected individuals. This review discusses Li-Fraumeni syndrome in more depth, reviewing molecular, genomic, epidemiological, clinical, and therapeutic aspects of this disease.
李-弗劳梅尼综合征是一种罕见但严重的遗传性癌症易感综合征，其特征是在生命早期患癌风险显著增加。李-弗劳梅尼综合征主要由TP53肿瘤抑制基因的种系突变引起，与多种恶性肿瘤相关。李-弗劳梅尼综合征的临床管理可能具有挑战性，尤其是对患者的终身监测和随访，这需要多学科方法。对李-弗劳梅尼综合征分子和临床基础的新见解，再加上基因组技术和靶向治疗的进展，为优化风险评估、早期检测以及根据受影响个体独特的临床和分子特征量身定制治疗策略带来了希望。本综述更深入地讨论了李-弗劳梅尼综合征，回顾了该疾病的分子、基因组、流行病学、临床和治疗方面。
