Multiple cutaneous melanomas in a patient with Li-Fraumeni syndrome: A case report

Li-Fraumeni syndrome (LFS) is a rare genetic condition associated with an increased predisposition to various malignancies due to a mutation in the TP53 tumour-suppressor gene. The typical LFS tumour spectrum includes osteosarcoma, soft tissue sarcoma, pre-menopausal breast cancer, brain tumours and adrenocortical carcinoma. Although melanoma is not a hallmark of LFS, sporadic cases have been described in the literature. This article reports a patient with genetically confirmed Li-Fraumeni syndrome carrying the pathogenic TP53 NM_000546.5: c.357delC (p.Lys120Serfs∗3) variant, who developed three primary cutaneous melanomas in addition to several classical LFS-associated malignancies. While cutaneous tumours are not part of the typical LFS spectrum, the increased risk of multiple malignancies in LFS patients underscores the importance of annual dermatological examinations.