小儿黑色素细胞肿瘤中难以捉摸的 BAP1 基因突变。

IF 1.2 4区 医学 Q3 DERMATOLOGY
Danna Moustafa, Mia A Mologousis, Lyn M Duncan, Elena B Hawryluk
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引用次数: 0

摘要

皮肤 BAP1 失活黑素细胞瘤(BIM)是一种组织病理学定义为上皮样、以真皮为主的黑素细胞增生并伴有 BAP1 缺失的黑素细胞瘤。BIM与Spitz痣的组织学特征有重叠之处,但与Spitz痣不同的是,大多数BIM同时携带BAP1和BRAFV600E突变。本研究通过对具有普通Spitz痣和真皮特征的小儿黑色素细胞肿瘤进行BAP1和BRAFV600E免疫组化染色,研究了BIM与小儿Spitz痣的潜在重叠。在我们的研究中,没有一个被染色的肿瘤同时表现出成人 BIM 所特有的 BAP1 缺失和 BRAFV600E 阳性,这表明这是儿科平庸肿瘤中的一种低频突变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The elusive BAP1 mutation in pediatric melanocytic tumors.

Cutaneous BAP1-inactivated melanocytomas (BIM) are melanocytic proliferations defined histopathologically by an epithelioid, predominantly dermal melanocytic proliferation with loss of BAP1, and have been largely characterized in adult patients but less well-described in pediatric cohorts. BIM share overlapping histological features with those seen in Spitz nevi; however, unlike Spitz nevi, the majority of BIM carry both BAP1 and BRAFV600E mutations. This study investigated the potential overlap of BIMs with pediatric Spitz nevi by performing immunohistochemical staining of BAP1 and BRAFV600E on pediatric melanocytic tumors with banal Spitz and dermal features. None of the stained tumors in our study exhibited the concurrent BAP1 loss and BRAFV600E positivity that are characteristic of adult BIM, suggesting that this is a low-frequency mutation among banal tumors in the pediatric population.

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来源期刊
Pediatric Dermatology
Pediatric Dermatology 医学-皮肤病学
CiteScore
3.20
自引率
6.70%
发文量
269
审稿时长
1 months
期刊介绍: Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.
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