骨髓增生异常综合征相关遗传学异常  

Genetic abnormalities related to myelodysplastic syndrome

作　　者：陈妤 沈文怡[1] CHEN Yu;SHEN Wenyi(Department of Hematology,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院血液科,江苏南京210029

出　　处：《南京医科大学学报（自然科学版）》2020年第7期1066-1069,1077,共5页Journal of Nanjing Medical University(Natural Sciences)

基　　金：江苏省卫生厅指导性科研课题(Z201402);江苏省“六大人才高峰”(WSN-026);江苏省卫计委科教强卫工程医学青年人才(QNRC2016565)。

摘　　要：骨髓增生异常综合征(myelodysplastic syndromes,MDS)作为一组起源于造血干细胞的异质性克隆性疾病,以骨髓无效造血和向急性白血病转化的高风险为特征。过去十年,因为测序技术的飞速发展,对MDS的遗传学认知有了显著的提高,进一步提高了疾病的早期诊断、危险度分层,更有利于了解发病机制及治疗方案的改进。文章就近年MDS相关遗传学异常进行如下综述。Myelodysplastic syndrome(MDS)refers to a group of diseases derived from heterogeneous cloning of hematopoietic stem cells,which is characterized by cytopenia associated with ineffective hematopoiesis and a high risk of progression to acute leukemia.In the past decade,our knowledge about the genetics of MDS has been substantially improved due to the rapid development of sequencing technology,which facilitates the early diagnosis,risk stratification,interpretation of pathogenesis and the improvement of treatment of the disease.Here we review the recent literatures about the genetic abnormalities related to MDS.

关 键 词：骨髓增生异常综合征 遗传学 基因突变 

分 类 号：R551.3[医药卫生—血液循环系统疾病]