Abstract
typically occurs in adolescents and young adults. Patients with localized osteosarcoma at presentation have a 60~80% rate of long-term survival. But carriers of a p53 germline mutation, Li-Fraumeni syndrome (LFS), have a life-time risk of 90% of developing a malignancy. LFS, which was first described in 1969 by Li and Fraumeni, is a cancer predisposition syndrome associated with sarcoma and wide spectrum of tumors. Here, we report a p53 germline mutation in a 17-year-old girl LFS patient with osteosarcoma in proximal tibia and adenocarcinoma of lung.
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