费城染色体阴性骨髓增殖性肿瘤的诊断与治疗：JAK2 V617F基因突变评价

The diagnosis and treatment of Philadelphia chromosome-negative myeloproliferative neoplasms：evaluation of JAK2 V617F gene mutation

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.

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 long- term outcomes with respect to efficacy and safety. It is not time to give up conventional medicine, such as hydroxyurea or aspirin.