Mullally A
Division of Hematology, Brigham and Women's Hospital, Harvard Medical School, 02115, Boston, MA, USA.
Pathologe. 2016 Nov;37(Suppl 2):175-179. doi: 10.1007/s00292-016-0240-2.
Chronic myeloproliferative neoplasms (MPN) comprise a spectrum of clonal neoplastic disorders characterized by overproduction of terminally differentiated cells of the myeloid lineage. A common genetic basis for the BCR-ABL-negative MPN disorders was elucidated in 2005 with the identification of the JAK2V617F mutation in the majority of MPN patients. The discovery of JAK2V617F had a dramatic impact on the diagnosis and treatment of MPN. Testing for JAK2 mutations is now included in the World Health Organization (WHO) criteria for the diagnosis of MPN, and in 2011 the oral JAK2 kinase inhibitor ruxolitinib became the first Food and Drug Administration (FDA)-approved drug for the treatment of myelofibrosis. The drug is now also approved in Europe and Canada.
慢性骨髓增殖性肿瘤（MPN）是一系列克隆性肿瘤性疾病，其特征是髓系终末分化细胞过度增殖。2005年，随着大多数MPN患者中JAK2V617F突变的发现，BCR-ABL阴性MPN疾病的共同遗传基础得以阐明。JAK2V617F的发现对MPN的诊断和治疗产生了巨大影响。目前，JAK2突变检测已纳入世界卫生组织（WHO）MPN诊断标准，2011年，口服JAK2激酶抑制剂芦可替尼成为首个获得美国食品药品监督管理局（FDA）批准用于治疗骨髓纤维化的药物。该药物目前在欧洲和加拿大也已获批。
