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真性红细胞增多症患者的雀斑样痣:JAK2(V617F)突变有何作用?

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

作者信息

Uzuncakmak Tugba Kevser, Yilmaz Sarenur, Karadag Ayse Serap, Akdeniz Necmettin, Akalin Ibrahim

机构信息

Faculty of Medicine; Department of Dermatology and Venerology; Istanbul Medeniyet University ; Istanbul, Turkey.

Faculty of Medicine; Department of Medical Genetics; Istanbul Medeniyet University ; Istanbul, Turkey.

出版信息

JAKSTAT. 2015 Jul 24;4(1):e1071000. doi: 10.1080/21623996.2015.1071000. eCollection 2015.

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.

摘要

雀斑样痣是一种临床特征,表现为大量显著存在的雀斑,或当它们在看似正常的皮肤上以独特分布出现时。这种情况可能是先天性的或后天获得的,可能涵盖广泛的疾病范围,从孤立的良性色素沉着障碍到许多与分子异常相关的综合征。我们报告一名59岁女性患者,有多处雀斑样痣,于3年前初发,同时伴有真性红细胞增多症。该患者被发现Janus激酶2(JAK-2)突变呈阳性。由于JAK-2 V617F突变导致的该通路过度激活在骨髓增殖性疾病中是一种众所周知的情况,但在黑素细胞疾病中尚未见报道。此外,除了JAK-STAT通路外,之前已经定义了几种与雀斑样痣相关的信号通路。我们希望通过本病例报告引起对JAK-2突变在雀斑样痣形成中的潜在作用的关注。

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