JAK2阴性真性红细胞增多症
JAK2 Negative Polycythemia Vera.
作者信息
Geetha J P, Arathi C A, Shalini M, Srinivasa Murthy A G
机构信息
Department of Pathology, Sri Siddhartha Medical College, Tumkur, Karnataka, India.
出版信息
J Lab Physicians. 2010 Jul;2(2):114-6. doi: 10.4103/0974-2727.72215.
Polycythemia vera (PV) is a stem cell disorder, characterized as a panhyperplastic, malignant, and neoplastic marrow disorder. Several reasons suggest that a mutation on the Janus kinase-2 gene (JAK2) is the most probable candidate gene involved in PV pathogenesis, as JAK2 is directly involved in intracellular signaling, following its exposure to cytokines, to which PV progenitor cells display hypersensitivity. A recurrent unique acquired clonal mutation in JAK2 was found in most patients with PV and other myeloproliferative diseases (MPDs). A female patient of age 50 years, presented with hemiplegia, diplopia, and had a consistent rise in hemoglobin and hematocrit. Serum Erythropoietin (Epo) was decreased. JAK2 mutation analysis was found to be negative. A diagnosis of polycythemia vera was made on the basis of the British Committee for Standards in Hematology (BCSH) guidelines.
真性红细胞增多症（PV）是一种干细胞疾病，其特征为全血细胞增生性、恶性和肿瘤性骨髓疾病。有几个原因表明，Janus激酶2基因（JAK2）突变是PV发病机制中最可能的候选基因，因为JAK2在暴露于细胞因子后直接参与细胞内信号传导，而PV祖细胞对这些细胞因子表现出超敏反应。在大多数PV患者和其他骨髓增殖性疾病（MPD）患者中发现了JAK2反复出现的独特获得性克隆突变。一名50岁女性患者出现偏瘫、复视，血红蛋白和血细胞比容持续升高。血清促红细胞生成素（Epo）降低。JAK2突变分析结果为阴性。根据英国血液学标准委员会（BCSH）指南做出了真性红细胞增多症的诊断。
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