泛发性斑痣样痣中出现的簇状Spitz痣和先天性痣样痣1例的基因组分析
Genomic analysis of a case of agminated Spitz nevi and congenital-pattern nevi arising in extensive nevus spilus.
作者信息
Porubsky Caitlin, Teer Jamie K, Zhang Yonghong, Deschaine Maria, Sondak Vernon K, Messina Jane L
机构信息
Department of Dermatology, PCOM Mednet/North Fulton Hospital Medical Campus, Roswell, Georgia.
Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, Florida.
出版信息
J Cutan Pathol. 2018 Feb;45(2):180-183. doi: 10.1111/cup.13082. Epub 2017 Dec 17.
Abstract
Nevus spilus is a melanocytic neoplasm characterized by a tan macular background punctuated by multiple hyperpigmented macules or papules that represent various types of nevi. These include junctional and compound nevi, Spitz nevi, and rarely blue nevi. We report a unique case of widespread, multiple nevi spili giving rise to agminated Spitz nevi and congenital-pattern compound nevi. We performed genetic analysis to further characterize the mutational profile of this rare entity.
摘要
斑痣是一种黑素细胞肿瘤，其特征为淡褐色的斑状背景上散布着多个色素沉着的斑疹或丘疹，这些斑疹或丘疹代表着各种类型的痣。其中包括交界痣和混合痣、Spitz痣，很少见蓝色痣。我们报告了一例独特的广泛多发斑痣病例，其引发了簇状Spitz痣和先天性模式混合痣。我们进行了基因分析，以进一步明确这种罕见病变的突变特征。
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本文引用的文献
1
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Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
2
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Pathology. 2016 Feb;48(2):113-31. doi: 10.1016/j.pathol.2015.12.007. Epub 2016 Jan 18.
3
Naevus spilus-type congenital melanocytic naevus associated with a novel NRAS codon 61 mutation.斑痣样先天性黑素细胞痣与一种新的NRAS密码子61突变相关。
Br J Dermatol. 2016 Mar;174(3):642-4. doi: 10.1111/bjd.14105. Epub 2015 Nov 21.
4
Mosaic RASopathies: phenotypic and genotypic differentiation of naevus spilus-type congenital melanocytic naevus and segmental naevus spilus.镶嵌性RAS病：雀斑样痣型先天性黑素细胞痣和节段性雀斑样痣的表型与基因型鉴别
J Eur Acad Dermatol Venereol. 2016 Jul;30(7):1244-6. doi: 10.1111/jdv.13173. Epub 2015 Apr 16.
5
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J Invest Dermatol. 2014 Oct;134(10):2658-2660. doi: 10.1038/jid.2014.195. Epub 2014 Apr 21.
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J Invest Dermatol. 2014 Jun;134(6):1766-1768. doi: 10.1038/jid.2014.6. Epub 2014 Jan 3.
7
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8
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