再生障碍性贫血:克隆性造血与疾病演变

Aplastic anemia:Clonal hemopoiesis and disease evolution

再生障碍性贫血（aplastic anemia,AA）是由多种病因和发病机制引起的一种骨髓造血功能衰竭性疾病,主要表现为骨髓有核细胞增生低下、全血细胞减少以及由其导致的贫血、出血和感染。目前一线的治疗方法主要为以抗人胸腺/淋巴细胞球蛋白（ATG）和环孢素A为基础的强化免疫抑制治疗（IST）和造血干细胞移植。

Aplastic anemia（AA）is one kind of bone marrow failure disease caused by immune-mediated destruction of hematopoietic stem and progenitor cells.Although standard immunosuppressive therapy combining ATG/ALG and cyclosporine A has improved the overall survival of AA patients,the risks for bleeding,infection,adverse cardiac events,relapse,secondary solid tumors also increased.Till now clonal evolution of AA including acquired chromosome abnormality,myelodysplastic syndrome/acute myelocytic leukemia evolution and clonal expansion of paroxysmal nocturnal hemoglobinuria is still the unsolved issues for hematologists.Here,in order to best understand this uncured disease,we reviewed the define of clonal hematopoiesis and disease evolution in AA,possible mechanism of evolution,related somatic mutation and prognosis of clonal evolution,choices of treatment and latest progress and deficiency.