Ohyashiki Junko H
Intractable Diseases Research Center, Tokyo Medical University.
Nihon Rinsho. 2009 Oct;67(10):1964-8.
The discovery of JAK2 mutation has greatly facilitated the approach to diagnosis of myeloproliferative neoplasms besides chronic myeloid leukemia. Since major causes of morbidity and mortality in polycythemia vera (PV) and essential thrombocythemia (ET) are represented by thrombosis, bleeding, progression to myelofiblosis, and tranfromation to leukemia, risk oriented therapeutic approach is recommended. Established risk factors for cardiovascular events are represented by older age (age over 60) and previous thrombosis. While there are some concerns, the JAK2 mutational status as well as mutant allele burden might be a new surrogate marker for stratified management of PV and ET. Finally, there is a great expectation for novel drugs targeting the constitutively active JAK2/STAT pathway.
JAK2突变的发现极大地推动了除慢性粒细胞白血病之外的骨髓增殖性肿瘤的诊断方法。由于真性红细胞增多症（PV）和原发性血小板增多症（ET）发病和死亡的主要原因是血栓形成、出血、进展为骨髓纤维化以及转化为白血病，因此推荐采用以风险为导向的治疗方法。已确定的心血管事件风险因素包括老年（60岁以上）和既往血栓形成。尽管存在一些担忧，但JAK2突变状态以及突变等位基因负荷可能是PV和ET分层管理的新替代标志物。最后，对于靶向持续激活的JAK2/STAT通路的新型药物寄予了厚望。
