个体黑素皮质素 1 受体（MC1R）和酪氨酸酶变异等位基因杂合时的无黑色素性黑素瘤的皮肤镜检查、反射共聚焦显微镜检查和组织病理学检查。

Dermoscopy, reflectance confocal microscopy and histopathology of an amelanotic melanoma from an individual heterozygous for MC1R and tyrosinase variant alleles.

机构信息

School of Medicine Dermatology Research Centre, University of Queensland Institute for Molecular Bioscience, Brisbane, Queensland, Australia.

出版信息

Australas J Dermatol. 2012 Nov;53(4):291-4. doi: 10.1111/j.1440-0960.2012.00882.x. Epub 2012 Apr 12.

DOI:10.1111/j.1440-0960.2012.00882.x

PMID:22497519

Abstract

We present a case of an amelanotic nodular melanoma occurring in a 26-year-old woman who carried a heterozygous (melancortin-1-receptor) MC1R 160R/W and tyrosinase (TYR) 402R/Q genotype and had a dark hair phenotype. We present dermoscopic, reflectance confocal microscopy (RCM) and histopathological images of the melanoma. We discuss the relationship between MC1R red hair colour (RHC) variants, TYR variants, phenotype and melanoma development. We also discuss the merits of RCM as an additional diagnostic aid for equivocal melanocytic lesions.

摘要

我们报告了一例发生在 26 岁女性的无黑色素性结节性黑色素瘤，该患者携带杂合子（黑素皮质素 1 受体）MC1R 160R/W 和酪氨酸酶（TYR）402R/Q 基因型，且具有深色头发表型。我们呈现了黑色素瘤的皮肤镜、反射共聚焦显微镜（RCM）和组织病理学图像。我们讨论了 MC1R 红头发颜色（RHC）变体、TYR 变体、表型和黑色素瘤发展之间的关系。我们还讨论了 RCM 作为有疑问的黑色素细胞病变的附加诊断辅助手段的优点。