| Abstract [eng] |
Relevance Li-Fraumeni syndrome (LFS) is a rare inherited cancer predisposition disorder characterized by a germline mutation in the TP53 tumour-suppressor gene, which plays a crucial role in regulating cell division and preventing tumour formation. Individuals with LFS are at elevated risk of developing a wide range of malignancies, often at younger ages than the general population. The classical tumour spectrum associated with LFS includes osteosarcoma, soft tissue sarcoma, pre menopausal breast cancer, brain tumours, and adrenocortical carcinoma. While cutaneous melanoma is not traditionally classified within the core tumour types of LFS, sporadic cases have been documented in medical literature. This article presents the case of a patient diagnosed with multiple occurrences of melanoma in conjunction with more commonly observed LFS-associated cancers. The presence of melanoma in this individual suggests a possible, though less frequently recognized, association between LFS and skin malignancies. This highlights the variable expression of cancer types in individuals carrying TP53 mutations. Given the broad cancer susceptibility seen in LFS patients, including rare tumours like melanoma, comprehensive and multidisciplinary surveillance strategies are essential. Incorporating annual full-body dermatological examinations into routine screening, even though skin cancers are not part of the classical LFS profile, may aid early detection and improve outcomes. This case report does not aim to alter current surveillance guidelines, but rather to contribute to the growing body of evidence supporting the need for further investigation into the association between LFS and melanoma. Aim To highlight the occurrence of melanoma in a patient with LFS and emphasize the importance of dermatological screening in standard LFS surveillance protocols. Methods Case report and literature review. Conclusion This case highlights the variable cancer spectrum in LFS and adds to growing evidence suggesting a potential association between TP53 mutations and melanoma. Although current guidelines do not normally include melanoma in LFS surveillance protocols, incorporating regular dermatological screening could support earlier detection and improved outcomes in this high-risk population. Keywords Li-Fraumeni syndrome, TP53 mutation, Cutaneous melanoma, Cancer Surveillance, Dermatological screening. |
