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[JAK2时代真性红细胞增多症的诊断与治疗]

[Diagnosis and therapy of polycythemia vera in the era of JAK2].

作者信息

Lengfelder E

机构信息

III. Medizinische Klinik, Hämatologie und Onkologie, Universitätsmedizin Mannheim.

出版信息

Dtsch Med Wochenschr. 2013 Feb;138(7):331-6. doi: 10.1055/s-0032-1332856. Epub 2013 Feb 7.

Abstract

This review gives an overview on relevant topics of pathogenesis and diagnosis of polycythemia vera (PV). The presently available treatment options in PV are discussed and recommendations for the clinical management are given.The JAK2V617F mutation, a point mutation in the tyrosine kinase gene JAK2 (Janus Kinase 2), has emerged as a central feature in the pathogenesis of the myeloproliferative neoplasms (MPN). Subsequently, the identification of several other mutated genes in MPN has shown that the pathogenesis is complex and that the JAK2V617F mutation is a critical, but not the only step leading to the uncontrolled proliferation in MPN including PV.The diagnostic criteria of PV have been revised in 2008 and include the JAK2V617F mutation as one of the two major criteria of the disease. This molecular diagnostic marker proves the clonality and facilitates the diagnosis of early and uncertain cases which remained sometimes undiagnosed in the past.Main treatment aims are the reduction of thromboembolic events and the minimization of the risk of myelofibrosis and of acute leukemia. PV patients with low risk of vascular complications should be treated with phlebotomy and low dose acetylsalicylic acid. High risk patients should receive cytoreductive therapy with hydroxyurea or interferon alpha. Studies with JAK inhibitors are presently ongoing.

摘要

本综述概述了真性红细胞增多症(PV)发病机制和诊断的相关主题。讨论了PV目前可用的治疗选择,并给出了临床管理的建议。JAK2V617F突变是酪氨酸激酶基因JAK2(Janus激酶2)中的一个点突变,已成为骨髓增殖性肿瘤(MPN)发病机制的核心特征。随后,在MPN中鉴定出的其他几个突变基因表明,其发病机制很复杂,JAK2V617F突变是导致包括PV在内的MPN中细胞不受控制增殖的关键步骤,但不是唯一步骤。PV的诊断标准在2008年进行了修订,包括JAK2V617F突变作为该疾病的两个主要标准之一。这种分子诊断标志物证实了克隆性,并有助于诊断过去有时未被诊断出的早期和不确定病例。主要治疗目标是减少血栓栓塞事件,并将骨髓纤维化和急性白血病的风险降至最低。血管并发症风险低的PV患者应采用放血疗法和低剂量阿司匹林治疗。高危患者应接受羟基脲或α干扰素的细胞减灭疗法。目前正在进行JAK抑制剂的研究。

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