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高黑色素瘤风险患者的黑素皮质素 1 受体 (MC1R) 变体与特定的皮肤镜 ABCD 特征相关。

Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features.

机构信息

Department of Dermatology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

出版信息

Acta Derm Venereol. 2012 Nov;92(6):587-92. doi: 10.2340/00015555-1457.

DOI:10.2340/00015555-1457
PMID:22965007
Abstract

Individuals with two red hair colour (RHC)-MC1R genetic variants have light skin and blond/reddish hair and, in comparison with those without such alleles, are at an increased risk of developing melanoma. Our study investigated the association of RHC variants and the Total Dermo-scopy Score (TDS), and the items that make up the TDS, in those with atypical naevi and melanomas from high risk melanoma patients. Eight hundred and seventy-six atypical naevi and 21 melanomas were scored according to the TDS system and MC1R polymorphisms were determined. Analyses revealed that several TDS items including pigment network, dark-brown colour and streaks were more frequently observed in atypical naevi from individuals without RHC variants, while structureless areas were more often observed in individuals with two RHC variants. Finally, no significant difference in TDS was detected in atypical naevi from individuals with two RHC variants compared to those without RHC. Clinicians should be aware of a different dermoscopic naevus pheno-type in patients with light blond or RHC MC1R variants.

摘要

具有两个红色头发颜色(RHC)-MC1R 遗传变异的个体具有浅色皮肤和金黄色/红色头发,与没有这些等位基因的个体相比,他们患黑色素瘤的风险增加。我们的研究调查了 RHC 变异体与总皮肤镜评分(TDS)以及构成 TDS 的各项指标在高危黑色素瘤患者中伴发不典型痣和黑色素瘤患者中的关联。根据 TDS 系统对 876 个不典型痣和 21 个黑色素瘤进行评分,并确定了 MC1R 多态性。分析表明,在没有 RHC 变异体的个体的不典型痣中,包括色素网、深褐色和条纹在内的几个 TDS 项目更频繁地出现,而在具有两个 RHC 变异体的个体中,结构无定形区域更常见。最后,在具有两个 RHC 变异体的个体的不典型痣中与没有 RHC 变异体的个体相比,TDS 没有显著差异。临床医生应注意到具有浅色金发或 RHC MC1R 变异体的患者中存在不同的皮肤镜痣表型。

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