费城染色体阴性骨髓增殖性肿瘤基因突变与治疗进展  

Gene Mutations and Treatment Progress in Philadelphia Chromosome Negative Myeloproliferative Neoplasm

作　　者：周泓羽 陈林[1] ZHOU Hongyu;CHEN Lin(Department of Hematology,the Second Affiliated Hospital of Chongqing Medical University,Chongqing 400072,China)

机构地区：[1]重庆医科大学附属第二医院血液内科,重庆400072

出　　处：《医学综述》2025年第6期672-679,共8页Medical Recapitulate

摘　　要：骨髓增殖性肿瘤(MPN)是髓系细胞过度增生引起的血液系统疾病。大多数MPN患者中可检出Janus激酶(JAK)2、血小板生成素受体基因及钙网蛋白基因突变,未检出上述3种基因突变MPN患者被定义为三阴性MPN。随着二代测序技术的发展,三阴性MPN的多种非驱动基因突变被检出,如10-11易位甲基胞嘧啶双加氧酶2、异柠檬酸脱氢酶1/2、Zeste基因增强子同源物2、DNA甲基转移酶3A、附加性梳样结构1、Casitas B细胞淋巴瘤、淋巴细胞衔接蛋白等。不同基因突变MPN的临床特点存在一定异质性,可用于指导疾病治疗及评估患者预后。MPN的传统治疗药物有羟基脲、干扰素等,随着分子研究的不断突破,JAK-信号转导及转录活化因子通路抑制剂逐渐在临床广泛应用,未来还有望研发出一些新的靶向药物。Myeloproliferative neoplasm(MPN)are hematological diseases caused by excessive proliferation of myeloid cells.Janus kinase(JAK)2,thrombopoietin receptor gene,and calreticulin gene mutations can be detected in most MPN patients,while MPN patients without these three gene mutations are defined as triple negative MPN.With the development of next-generation sequencing technology,various non-driver gene mutations of triple negative MPN have been detected,such as ten-eleven translocation 2,isocitrate dehydrogenase 1/2,enhancer of Zeste homolog 2,DNA methyltransferase 3A,additional sex combs like 1,Casitas B-lineage lymphoma,lymphocyte adapter protein,etc.The clinical characteristics of MPN with different gene mutations exhibit heterogeneity,which can be used to guide the disease treatment and assess the patient prognosis.The traditional therapeutic drugs for MPN include hydroxyurea,interferon,etc.With the continuous breakthroughs in molecular research,JAK-signal transducer and activator of transcription pathway inhibitors are gradually being widely used in the clinical practice,and there is hope for the development of new targeted drugs in the future.

关 键 词：骨髓增殖性肿瘤 基因突变 干扰素 羟基脲 Janus激酶抑制剂 

分 类 号：R733.3[医药卫生—肿瘤]