中文摘要：

近年来,关于骨髓增殖性肿瘤（MPN）病理机制的研究发现,潜在的体细胞基因改变和表观遗传学事件有助于MPN的发生,影响MPN的疾病表型、进展及转化.这些异常克隆主要包括：JAK-STAT信号转导通路异常激活相关的JAK2、CALR、MPL、CBL、LNK、SOCS等分子异常;表观遗传学修饰相关的TET2、ASXL1、IDH1/2、DNMT3A、EZH2基因突变等.文章介绍了MPN患者体细胞异常克隆及其克隆演化.

英文摘要：

In recent years,studies committed to the myeloproliferative neoplasms （MPN） pathogenesis suggest that potential somatic genetic alterations,and epigenetic events might contribute to MPN development,influence the MPN disease phenotype,progression,and promote transformation.The most relevant mutations identified so far can be broadly classified into two main groups.Mutations associated with dysregulated JAK-STATsignal transduction pathway,including mutations in JAK2,CALR,MPL,CBL,LNK,SOCS.Mutations in several epigenetic modifiers,including mutations in TET2,ASXL1,IDH1/2,DNMT3A,EZH2 and so on.In this paper,the abnormal clones and clonal evolution of MPN were reviewed.