Ishii Takefumi, Bruno Edward, Hoffman Ronald, Xu Mingjiang
Section of Hematology/Oncology, University of Illinois College of Medicine, 909 S Wolcott Ave, COMRB, Rm 5035 (M/C 704), Chicago, IL 60612, USA.
Blood. 2006 Nov 1;108(9):3128-34. doi: 10.1182/blood-2006-04-017392. Epub 2006 Jun 6.
The JAK2(V617F) mutation has been shown to occur in the overwhelming majority of patients with polycythemia vera (PV). To study the role of the mutation in the excessive production of differentiated hematopoietic cells in PV, CD19+, CD3+, CD34+, CD33+, and glycophorin A+ cells and granulocytes were isolated from the peripheral blood (PB) of 8 patients with PV and 3 healthy donors mobilized with G-CSF, and the percentage of JAK2(V617F) mutant allele was determined by quantitative real-time polymerase chain reaction (PCR). The JAK2(V617F) mutation was present in cells belonging to each of the myeloid lineages and was also present in B and T lymphocytes in a subpopulation of patients with PV. The proportion of hematopoietic cells expressing the JAK2(V617F) mutation decreased after differentiation of CD34+ cells in vitro in the presence of optimal concentrations of SCF, IL-3, IL-6, and Epo. These data suggest that the JAK2(V617F) mutation may not provide a proliferative and/or survival advantage for the abnormal PV clone. Although the JAK2(V617F) mutation plays an important role in the biologic origins of PV, it is likely not the sole event leading to PV.
已证实绝大多数真性红细胞增多症（PV）患者存在JAK2（V617F）突变。为研究该突变在PV中分化造血细胞过度生成中的作用，从8例PV患者及3例接受G-CSF动员的健康供者的外周血（PB）中分离出CD19 +、CD3 +、CD34 +、CD33 +和血型糖蛋白A +细胞以及粒细胞，通过定量实时聚合酶链反应（PCR）测定JAK2（V617F）突变等位基因的百分比。JAK2（V617F）突变存在于每个髓系谱系的细胞中，也存在于部分PV患者的B和T淋巴细胞中。在体外最佳浓度的干细胞因子（SCF）、白细胞介素-3（IL-3）、白细胞介素-6（IL-6）和促红细胞生成素（Epo）存在的情况下，CD34 +细胞分化后，表达JAK2（V617F）突变的造血细胞比例下降。这些数据表明，JAK2（V617F）突变可能不会为异常的PV克隆提供增殖和/或生存优势。虽然JAK2（V617F）突变在PV的生物学起源中起重要作用，但它可能不是导致PV的唯一因素。
