부산대학교 도서관

Simple Summary: The research aims to investigate familial melanoma, a form of skin cancer that has a genetic predisposition. Melanoma is a dangerous cancer with a high potential for metastasis, and early detection is crucial for reducing its impact on patients. The study focuses on identifying specific genetic mutations associated with familial melanoma and correlating them with distinct dermoscopic patterns. By understanding the relationship between genetic mutations and dermoscopic features, the researchers aim to develop reference models to aid clinicians in identifying high-risk patients and their families. Establishing these correlations could lead to improved screening and a timely detection of new tumors in individuals with a family history of melanoma. Cutaneous melanoma is a highly aggressive skin cancer. It is estimated that 5% to 10% of the underlying mutations are hereditary and responsible for familial (or hereditary) melanoma. These patients are prone to the early development and higher risk of multiple melanomas. In recent years, an increasing number of genes have been identified thanks to genetic testing, allowing the subsequent surveillance of individuals at risk, yet it is still difficult to predict the presence of these mutations on a clinical basis. In this scenario, specific phenotypic and dermoscopic features could help clinicians in their identification. The aim of this work has been to correlate mutations to prevalent dermoscopic patterns, paving the way for reference models useful in clinical practice. In our cohort, out of 115 patients referred to genetic counseling for melanoma, 25 tested positive (21.7%) for critical mutations: CDKN2A (n = 12), MITF (n = 3), BAP1 (n = 1), MC1R (n = 3), PTEN (n = 1), TYR (n = 2), OCA2 (n = 1), and SLC45A2 (n = 2). The phenotype profiles obtained through the digital acquisition, analysis, and description of both benign and malignant pigmented lesions showed a predominance of the type II skin phenotype, with an elevated mean total nevus number (182 moles, range 75–390). As for dermoscopic features, specific mutation-related patterns were described in terms of pigmentation, areas of regression, and vascular structures. Although further studies with larger cohorts are needed, our work represents the beginning of a new approach to the study and diagnosis of familial melanoma, underlining the importance of clinical and dermoscopic patterns, which may constitute a reference model for each gene, enabling comparison. [ABSTRACT FROM AUTHOR]