Lentiginoses in polycythemia vera patient: Is there a role for JAK2 (V617F) mutation?

JAK-STAT Pub Date : 2015-07-24 eCollection Date: 2015-01-01 DOI:10.1080/21623996.2015.1071000
Tugba Kevser Uzuncakmak, Sarenur Yilmaz, Ayse Serap Karadag, Necmettin Akdeniz, Ibrahim Akalin
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Abstract

Lentiginoses is a clinical feature in which lentigines are remarkably present in large numbers or when they occur in a distinctive distribution on apparently normal skin. This entity may be congenital or acquired and may cover a wide spectrum of diseases ranging from an isolated benign pigmentary disorder to numerous syndromes associated with molecular abnormalities.We present a 59-year-old female patient with multiple lentigines which first emerged 3 y ago concurrently with policytemia vera. The patient had found to be positive for Janus Kinase-2 (JAK-2) mutation. Over activation of the pathway due to JAK-2 V617F mutation is a well-known condition in myeloproliferative diseases but has not been reported in melanocytic disorders. Moreover, several signaling pathways have previously been defined with lentiginosis except JAK-STAT pathway. We want to draw attention to the potential effect of JAK-2 mutation in lentigogenesis with this case report.

真性红细胞增多症患者的扁豆蛋白酶:是否与JAK2 (V617F)突变有关?
小豆荚病是一种临床特征,其中小豆荚显著地大量存在或当它们在明显正常的皮肤上以独特的分布发生时。这种实体可能是先天性的或获得性的,并且可能涵盖广泛的疾病,从孤立的良性色素紊乱到与分子异常相关的许多综合征。我们报告一名59岁的女性患者,她患有多发性鼻窦炎,首次出现于3年前,同时伴有真性贫血。患者发现Janus Kinase-2 (JAK-2)突变阳性。由于JAK-2 V617F突变导致的通路过度激活是骨髓增生性疾病中众所周知的情况,但在黑色素细胞疾病中尚未报道。此外,除了JAK-STAT通路外,已有几种信号通路被定义为与小扁豆病有关。我们希望通过这一病例报告引起人们对JAK-2突变在慢细胞发生中的潜在影响的关注。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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