Li‐Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature

Abstract

Li‐Fraumeni syndrome (LFS) is a rare, autosomal dominant inherited cancer predisposition syndrome associated with germline mutation of the TP53 tumor suppressor gene [1, 2]. It is traditionally characterized by early‐onset of multiple primary tumors: sarcoma, breast cancer, brain tumor, leukemia, and adrenocortical carcinoma. [2] Classically, LFS is clinically diagnosed when a patient present with sarcoma diagnosed before age 45 years with a first‐degree relative with any cancer before age 45 years and an additional first‐ or second‐degree relative with any cancer before age 45 years or a sarcoma at any age.

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