摘要幼年型粒单核细胞白血病(JMML)是一种特发于婴幼儿时期罕见的造血系统恶性疾病,以骨髓祖代细胞对粒-巨噬细胞集落刺激因子(GM-CSF)高度敏感和RAS/丝裂原活化蛋白激酶(MAPK)信号通路的病理性活化为特征.近年来,关于JMML的发病机制、诊断及治疗方面的研究均取得较大的进展.笔者拟就JMML的基因诊断学、表观遗传学、治疗及预后的研究进展进行综述.

abstractsJuvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder that occurs during infancy and early childhood.It is characterized by hypersensitivity of hematopoietic progenitors to granulocytemacrophage colony-stimulating factor (GM-CSF) and activated RAS/mitogen-activated protein kinase (MAPK) pathway.In recent years,lots of research achievements about JMML were published in aspects of the pathogenesis,diagnosis and treatment.The authors summarize the research progresses of gene diagnosis,epigenetics,treatment and prognosis of JMML.