皮肤黑色素瘤是一种高度侵袭性的皮肤癌。据估计,5%至10%的潜在突变是遗传性的并且是家族性(或遗传性)黑素瘤的原因。这些患者容易早期发展和多发性黑色素瘤的风险较高。近年来,由于基因检测,越来越多的基因被鉴定出来,允许随后对处于危险中的个人进行监测,然而,在临床基础上预测这些突变的存在仍然很困难。在这种情况下,特定的表型和皮肤镜特征可以帮助临床医生进行鉴定.这项工作的目的是将突变与普遍的皮肤观察模式相关联,为临床实践中有用的参考模型铺平道路。在我们的队列中,在115名黑色素瘤遗传咨询患者中,25检测阳性(21.7%)的关键突变:CDKN2A(n=12),MITF(n=3),BAP1(n=1),MC1R(n=3),PTEN(n=1),TYR(n=2),OCA2(n=1),和SLC45A2(n=2)。通过数字采集获得的表型谱,分析,良性和恶性色素性病变的描述显示出II型皮肤表型的优势,平均总痣数升高(182摩尔,范围75-390)。至于皮肤特征,根据色素沉着描述了特定的突变相关模式,回归领域,和血管结构。尽管需要对更大的队列进行进一步的研究,我们的工作代表了研究和诊断家族性黑色素瘤的新方法的开始,强调临床和皮肤镜模式的重要性,这可能构成每个基因的参考模型,使能比较。
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.