摘要
唐氏综合征（DS）患儿于婴儿期常发生暂时性骨髓增殖失调（TMD）,随后其罹患急性巨核细胞白血病（AMKL）几率显著增高,DS相关暂时性骨髓增殖失调（DS-TMD）与DS相关急性巨核细胞白血病（DS-AMKL）二者间存在相同GATA1基因突变体类型.第21号染色体三体性（T21）与GATA1基因突变体的获得及额外的基因事件构成DS相关白血病发病机制的“三次打击”学说;“静默型”TMD概念的提出及结合GATA1基因突变体的监测对DS患儿进行危险度分组干预治疗,有望进一步提高DS-TMD治愈率;作为研究体内白血病疾病进展的“多步骤模型”,从DS,TMD到AMKL的疾病进展过程,有助于对正常造血干/祖细胞如何转化为自血病细胞及该恶性疾病转化过程中特定的信号通路与癌基因间相互作用的进一步阐释.笔者将对上述DS相关髓系增殖（DS-MP）相关过程及其中作用机制进行综述,对DS-MP的进一步研究提供理论基础.
Children with Down syndrome （DS） often present with transient myeloproliferative disorder （TMD） and have an increased incidence of acute megakaryocytic leukemia （AMKL）.The same type of GATA1 mutation exists in these two diseases.Appearance of trisomy 21 （T21）,GATA1 mutation and extra gene event in hematologic malignancies,known as ＆quot; three times hits theory＆quot; constitute to the pathogenesis of DS related leukemia.The new notion of ＆quot; silent TMD＆quot; and GATA1 gene mutation monitoring can give further risk classification and better treatment to children with DS,which would enhance the whole cure rate.As a ＆quot;multi-step model＆quot; of leukemogenesis development in vivo,the process from DS,TMD to AMKL will give us greater knowledge about how the normal hematopoietic stem/progenitor cells transformed into leukemia cells and how the interaction between specific signaling pathway and oncogenes were.This article reviews literatures on the mechanism and related process involved in Down syndrome related myeloid proliferation （DS-MP） will offer a theoretical basis for the further study.
出处
《国际输血及血液学杂志》
CAS
2015年第2期149-153,共5页
International Journal of Blood Transfusion and Hematology
基金
国家自然科学基金资助项目（81170513,81370627）
