CAJ | 학술논문

简要回顾了近百余年人们对骨髓增殖性肿瘤(MPN)的认识过程,重点讨论这一类疾病的诊断与治疗.JAK2 V617F基因突变的发现将费城染色体阴性(Ph-)MPN带入分子生物学时代,为临床提供了重要的诊断手段和依据,指导、研发了芦可替尼(ruxolitinib)等一批靶向药物.但是,与慢性粒细胞白血病(CML)中的bcr-abl不同,JAK2 V617F突变不是MPN诊断的“金标准”,其他辅助检查和鉴别诊断仍不可少.目前,JAK抑制剂开始用于Ph-MPN患者,有一定的适应证,远期疗效正在观察,目前还不能替代有效的常规治疗,如羟基脲、阿司匹林等.
간요회고료근백여년인문대골수증식성종류(MPN)적인식과정,중점토론저일류질병적진단여치료.JAK2 V617F기인돌변적발현장비성염색체음성(Ph-)MPN대입분자생물학시대,위림상제공료중요적진단수단화의거,지도、연발료호가체니(ruxolitinib)등일비파향약물.단시,여만성립세포백혈병(CML)중적bcr-abl불동,JAK2 V617F돌변불시MPN진단적“금표준”,기타보조검사화감별진단잉불가소.목전,JAK억제제개시용우Ph-MPN환자,유일정적괄응증,원기료효정재관찰,목전환불능체대유효적상규치료,여간기뇨、아사필림등.
The knowledge and understanding of myeloproliferative neoplasms (MPN) over the last hundred years has been reviewed in this article,focusing on clinical practice.The identification of JAK2 V617F gene mutation leads Philadelphia chromosome-negative (Ph) MPN into a new era of molecular biology.These advances not only provide a reliable diagnostic tool and important evidence for diagnosis of MPN,also induce a lot of investigation and manufacture of targeting drugs to JAK2 mutation.However,JAK2 V617F mutation is not the "gold standard" for the diagnosis of MPN,as unique as bcr-abl in CML.Certain routine lab results and differentiation with some other diseases are still necessary.A JAK1/JAK2 inhibitor,ruxolitinib,has been approved for clinical use,but indication should be followed.Further follow-up is needed to assess the longterm outcomes with respect to efficacy and safety.It is not time to give up conventional medicine,such as hydroxyurea or aspirin.