CAJ | 학술논문

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.
근년래,관우골수증식성종류(MPN)병리궤제적연구발현,잠재적체세포기인개변화표관유전학사건유조우MPN적발생,영향MPN적질병표형、진전급전화.저사이상극륭주요포괄:JAK-STAT신호전도통로이상격활상관적JAK2、CALR、MPL、CBL、LNK、SOCS등분자이상;표관유전학수식상관적TET2、ASXL1、IDH1/2、DNMT3A、EZH2기인돌변등.문장개소료MPN환자체세포이상극륭급기극륭연화.
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.