唐氏综合征常见伴发性血液病的研究进展  

Research progress of common blood diseases associated with Down's syndrome

作　　者：李泽许 马晴雯[1] 曾凡一[1,2] Li Zexu;Ma Qingwen;Zeng Fanyi(Shanghai Key Laboratory of Embryo and Reproduction Engineering,Key Laboratory of Embryo Molecular Biology of National Health Commission,Shanghai Institute of Medical Genetics,Shanghai Children’s Hospital,Shanghai Jiao Tong University,Shanghai 200040,China;Department of Histoembryology,Genetics&Development,Shanghai Jiao Tong University College of Basic Medical Sciences,Shanghai 200025,China)

机构地区：[1]上海交通大学附属儿童医院,上海市儿童医院,上海交通大学医学遗传研究所,国家卫健委医学胚胎分子生物学重点实验室,上海市胚胎与生殖工程重点实验室,200040 [2]上海交通大学基础医学院组织胚胎学与遗传发育学系,200025

出　　处：《国际遗传学杂志》2020年第3期166-179,共14页International Journal of Genetics

基　　金：国家重点研发计划项目(2016YFC1000503、2019YFA0801402);国家重大科学研究计划(2014CB964701、2014CB964703);上海市重中之重重点学科建设项目(2017ZZ02019)。

摘　　要：唐氏综合征(Down's syndrome,DS)是全世界最为常见的染色体数目异常导致的遗传病,患儿通常表现出严重的出生缺陷及发育异常。令人意外的是,DS患者不易患实体瘤,但高发血液疾病,尤其是暂时性骨髓增生异常(transient myeloproliferative disorder,TMD或者transient abnormal myelopoiesis,TAM)、急性巨核细胞白血病(acute megakaryoblastic leukemia,AMKL)和急性B淋巴细胞白血病(acute B lymphoblastic leukemia,ALL)。这3种血液疾病在DS患者中发病率远高于常人,其发病机制不仅与21号染色体上部分基因拷贝数增加现象相关,其他染色体上基因的异常表达也参与其中。本文针对DS患者常发血液病的临床症状及近几年相关发病机制的研究进行综述,以期为深入研究DS血液疾病发病机制提供参考,同时期望有助于该类特殊人群白血病的诊断和治疗。Down's syndrome(DS)is one of the most common genetic diseases caused by chromosome aberration in the world,and newborns with DS often have severe birth defects.While patients with DS are often free of solid tumors,they have a higher incidence of blood diseases,such as transient myeloproliferative disorder(TMD),i.e.transient abnormal myelopoiesis,(TAM),acute megakaryoblastic leukemia(AMKL)and acute B lymphocytic leukemia(ALL)than non-DS individuals.The pathogenesis in DS appears not only related to the dosage effect of genes on chromosome 21,but also the abnormal expression of genes on other chromosomes.In this review,we summarized the recent studies on the clinical symptoms and pathogenesis of blood diseases in DS patients,to provide further insights on the molecular pathogenesis of blood diseases associated with DS,and development of potential application in the diagnosis and treatment for DS patients with accompanying blood diseases.

关 键 词：唐氏综合征 暂时性骨髓增生异常 急性巨核细胞白血病 急性B淋巴细胞白血病 

分 类 号：R725[医药卫生—儿科]