Choi Chul Won, Bang Soo-Mee, Jang Seongsoo, Jung Chul Won, Kim Hee-Jin, Kim Ho Young, Kim Soo-Jeong, Kim Yeo-Kyeoung, Park Jinny, Won Jong-Ho
Division of Oncology-Hematology, Department of Internal Medicine, Korea University Guro Hospital, Seoul, Korea.
Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Korean J Intern Med. 2015 Nov;30(6):771-88. doi: 10.3904/kjim.2015.30.6.771. Epub 2015 Oct 30.
Polycythemia vera, essential thrombocythemia, and primary myelofibrosis are collectively known as 'Philadelphia-negative classical myeloproliferative neoplasms (MPNs).' The discovery of new genetic aberrations such as Janus kinase 2 (JAK2) have enhanced our understanding of the pathophysiology of MPNs. Currently, the JAK2 mutation is not only a standard criterion for diagnosis but is also a new target for drug development. The JAK1/2 inhibitor, ruxolitinib, was the first JAK inhibitor approved for patients with intermediate- to high-risk myelofibrosis and its effects in improving symptoms and survival benefits were demonstrated by randomized controlled trials. In 2011, the Korean Society of Hematology MPN Working Party devised diagnostic and therapeutic guidelines for Korean MPN patients. Subsequently, other genetic mutations have been discovered and many kinds of new drugs are now under clinical investigation. In view of recent developments, we have revised the guidelines for the diagnosis and management of MPN based on published evidence and the experiences of the expert panel. Here we describe the epidemiology, new genetic mutations, and novel therapeutic options as well as diagnostic criteria and standard treatment strategies for MPN patients in Korea.
真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化统称为“费城染色体阴性经典骨髓增殖性肿瘤(MPN)”。诸如Janus激酶2(JAK2)等新的基因畸变的发现,加深了我们对MPN病理生理学的理解。目前,JAK2突变不仅是诊断的标准指标,也是药物研发的新靶点。JAK1/2抑制剂鲁索替尼是首个被批准用于中高危骨髓纤维化患者的JAK抑制剂,随机对照试验证明了其在改善症状和生存获益方面的效果。2011年,韩国血液学会MPN工作组为韩国MPN患者制定了诊断和治疗指南。随后,又发现了其他基因突变,目前多种新药正在进行临床研究。鉴于最近的进展,我们根据已发表的证据和专家小组的经验,修订了MPN的诊断和管理指南。在此,我们描述了韩国MPN患者的流行病学、新的基因突变、新的治疗选择以及诊断标准和标准治疗策略。