骨髓增生异常综合征造血干/祖细胞基因表达异常的研究进展  

Research Progress on Gene Expression Abnormality of Hematopoietic Stem/Progenitor Cells in Myelodysplastic Syndromes——Review

作　　者：张晶[1] 马燕[1] 许小平[1] 

机构地区：[1]复旦大学华山医院血液科,上海200040

出　　处：《中国实验血液学杂志》2015年第5期1497-1503,共7页Journal of Experimental Hematology

基　　金：国家自然科学基金(81070404;81100340)

摘　　要：骨髓增生异常综合征(myelodysplastic syndromes,MDS)是一组累及一系或多系血细胞的异质性克隆性疾病,其发病机制仍不明确,目前尚无有效的靶向药物能阻止其疾病进展。MDS起源于造血干细胞,近年来许多研究报道MDS患者骨髓CD34+细胞复杂的异常基因表达在MDS的发生、发展中发挥着关键作用,且与患者的预后和生存密切相关,如DLK1、核糖体转录本(ribosomal transcripts,RP)基因、Toll样受体(toll-like receptor,TLR)基因、EPA-1和干扰素刺激基因(interferon-stimulated genes,ISG)。由于疾病的异质性,骨髓CD34+细胞中异常的基因表达谱还与特定的FAB亚型或细胞遗传学分组密切相关。为阐明MDS的发病机制、寻找治疗靶点,本文对低危、高危患者和携带常见遗传学异常MDS患者的造血干/祖细胞异常基因表达谱新进展作一综述。Myelodysplastic syndrome( MDS) is a group of heterogeneous clonal disease involving one or more series of hematopoietic cells. Its pathogenesis is still unclear. No effective targeted drug is available to prevent this disease progression. MDS originates in hematopoietic stem cells. Recent researches found that the complex abnormal gene expression occurred in bone marrow CD34 + cells plays a key role in development of MDS. Some of these genes are closely related with the patient's prognosis and survival,such as DLK1,ribosomal transcripts gene,Toll-like receptors gene,EPA-1 and interferon-stimulated genes. Due to heterogeneity of this disease,abnormal gene expression profiles in bone marrow CD34 + cells are closely associated with particular FAB or cytogenetic subtypes. To elucidate the pathogenesis of MDS and investigate its therapeutic target,this article reviews progress of researches on abnormal gene expression profiles of hematopoietic stem /progenitor cells in low-risk,high-risk patients and MDS patients who carry common cytogenetic abnormalities.

关 键 词：骨髓增生异常综合征 造血干/祖细胞 基因表达异常 

分 类 号：R551.3[医药卫生—血液循环系统疾病]