获得性再生障碍性贫血克隆演变的研究进展

获得性再生障碍性贫血（AA）是一种免疫介导的骨髓衰竭性疾病，超过70%的AA患者在其造血干细胞中 可以见到克隆性造血。AA常见的体细胞突变如PIGA基因和HLA等位基因的缺失可能与其免疫学病理机制密切相 关；AA发病时年龄较大、白细胞端粒缩短以及HLAⅠ类危险等位基因有可能促进克隆演变；AA的病程、基因突变和 细胞遗传学异常在AA向骨髓增生异常综合征（MDS）的转化中具有关键作用。本文在总结AA克隆演变的既往研究 的基础上，结合第60届美国血液学会（American Society of Hematology）年会报道内容，对AA的克隆起源、克隆选择和 克隆演变进行综述，并对克隆演变的影响因素及AA向MDS转化的危险因素着重论述。

Progress in research of clonal evolution of acquired aplastic anemia

Acquired aplastic anemia (AA) is an immune-mediated bone marrow failure disease. Clonal hematopoiesis can be seen in hematopoietic stem cells in more than 70% of AA patients. Common somatic mutations such as the deletion of PIGA gene and HLA allele in AA may be closely related to its immunopathological mechanism. Older age, shortened telomeres in leukocytes and HLA class Ⅰ risk alleles in AA may promote clonal evolution. The course, gene mutation and cytogenetic abnormalities of AA play a key role in the transformation of AA to myelodysplastic syndrome (MDS). Based on the latest research progress of AA cloning evolution and the report of the 60th Annual Conference of American Society of Hematology, this paper reviews the origin, selection and evolution of AA clone. The influencing factors of AA clone evolution and the risk factors of AA transforming into MDS are discussed emphatically.