JAK2 V617F

JAK2V617F是骨髓增生性疾病中一种高度复发性突变。在98%的真性红细胞增多症患者中发现了它，而在有原发性血小板增多症和原发性骨髓纤维化的患者中只有一半以上。虽然与癌症的相关性较低，但与淋巴性白血病相比，骨髓性白血病更易发病。V617F突变是一种激活突变，导致激酶活性增加。这种突变似乎仅限于血液系统恶性肿瘤。用ruxolitinib治疗JAK突变体疾病已经取得了一些临床成功。
JAK2 V617F is a highly recurrent mutation in myeloproliferative diseases. It is found in around 98% of patients with polycythemia vera, and just over half of the patients with essential thrombocythemia and primary myelofibrosis. While less associated with cancer, when it is seen, it is more likely to be in myeloid leukemias than lymphoid leukemias. The V617F mutation is an activating mutation, resulting in increased kinase activity. The mutation seems to be restricted to hematologic malignancies. Treatment of JAK mutant diseases with ruxolitinib has seen some clinical success.