Servicio de Hematología, Hospital Universitario 12 de Octubre, Avenida Córdoba s/n, 28041, Madrid, Spain.
Ann Hematol. 2011 Aug;90(8):939-46. doi: 10.1007/s00277-011-1179-2. Epub 2011 Feb 18.
This study investigates the differential gene expression profile of JAK2(V617F)-positive myeloproliferative neoplasm (MPN) patients, with and without response to hydroxyurea (HU) treatment. Twenty-one polycythemia vera, 28 essential thrombocythemia, eight secondary erythrocytosis, and 30 controls were studied. Thirty-four genes were overexpressed in patients who did not respond to HU. Of these, some participate in proliferative pathways: MAPK, AKT, Src kinase (SFK), and JAK2 pathway. JAK2 allele burden was similar between groups of responders and nonresponder. A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes.
本研究调查了 JAK2(V617F)阳性骨髓增殖性肿瘤（MPN）患者对羟基脲（HU）治疗有反应和无反应的差异基因表达谱。研究了 21 例真性红细胞增多症、28 例原发性血小板增多症、8 例继发性红细胞增多症和 30 例对照。在对 HU 无反应的患者中，有 34 个基因表达过度。其中一些参与增殖途径：MAPK、AKT、Src 激酶（SFK）和 JAK2 途径。应答者和无应答者组之间 JAK2 等位基因负担相似。一种分子指纹可区分对 HU 治疗无反应的 JAK2(V617F)阳性 MPN 患者，这些患者 JAK2、MAPK14、PIK3CA 和 SFK 基因表达过度。
