Li-Fraumeni syndrome: the genetics and treatment considerations for the sarcoma and associated neoplasms

Abstract

Li-Fraumeni syndrome is an autosomal dominant disorder first reported by Drs Li and Fraumeni in 1969. Malkin was the first to describe a germline mutation as an underlying defect of Li-Fraumeni syndrome. Cancer risk in mutation carriers has been estimated to be 50% by age 40 and 90% by age 60. Children of affected parents have an approximate 50% risk of inheriting the familial mutation. Functional assays have been established that allow for easy genetic testing for TP53 mutation. Treatment goals center on early detection and surgical resection of affected organ. Targeted therapy for the TP53 gene may hold promise for the future.