Langabeer S E, Ni Ainle F, Conneally E, Lawler M
Cancer Molecular Diagnostics, Central Pathology Laboratory, St. James's Hospital, Dublin 8, Ireland.
Ir J Med Sci. 2007 Jul-Sep;176(2):105-9. doi: 10.1007/s11845-007-0026-x. Epub 2007 Apr 18.
The chronic myeloproliferative disorders (MPD) are clonal haemopoietic stem cell disorders.
The incidence of JAK2 V617F mutation was sought in a population of patients with MPD.
The JAK2 V617 mutation status was determined in 79 patients with known MPD and 59 patients with features suggestive of MPD.
The mutation was found in patients with polycythaemia vera, essential thrombocythaemia, idiopathic myelofibrosis and in patients with other chronic myeloproliferative disorders. Eight JAK2 V617F positive cases were identified amongst those patients with features suggestive of MPD.
The incidence of the JAK2 V617F mutation in MPD patients is similar to that reported by other groups. The assay confirmed and refined the diagnosis of several patients with features indicative of MPD. We suggest screening for this mutation in all patients with known and suspected MPD as identification is valuable in classification and is a potential target for signal transduction therapy.
慢性骨髓增殖性疾病（MPD）是克隆性造血干细胞疾病。
在MPD患者群体中探寻JAK2 V617F突变的发生率。
测定了79例已知患有MPD的患者以及59例具有MPD特征的患者的JAK2 V617突变状态。
在真性红细胞增多症、原发性血小板增多症、原发性骨髓纤维化患者以及其他慢性骨髓增殖性疾病患者中发现了该突变。在那些具有MPD特征的患者中鉴定出8例JAK2 V617F阳性病例。
MPD患者中JAK2 V617F突变的发生率与其他研究组报道的相似。该检测方法证实并完善了对若干具有MPD特征患者的诊断。我们建议对所有已知和疑似患有MPD的患者进行该突变的筛查，因为其鉴定在分类中具有价值，并且是信号转导治疗的潜在靶点。
