A Case Report:aplastic Anemia Transforms Into Myelodysplastic Syndrome And Then Develops Into Acute Myeloid Leukemia And Literature Review

Objective: Aplastic anemia(AA)is a kind of bone marrow failure caused by the autoimmune destruction of hematopoietic stem cells or progenitor cells.Its progression-myelodysplastic syndromes(MDS)or acute myelocytic leukemia(AML)is a serious complication in patients with bone marrow failure,being the leading cause of death.To deeply understand the pathogenesis of AA-MDS-AML,and improve the understanding of clonal hematopoiesis and transformation of myeloid neoplasms,so as to further guide the clinical selection of reasonable and effective treatment.Methods: The clinical features of the case were analyzed.The case was diagnosed using bone marrow imaging,bone marrow pathology,flow cytology and second-generation sequencing.Clinical outcome was observed by dynamic follow-up.Results: The patient was a female aging 63 years,with initial diagnosis of AA with normal karyotype.After high-dose cyclophosphamide therapy,the patient was subsequently treated with cyclosporin therapy.Four years later,the patient was diagnosed as MDS,with chromosome karyotype abnormalities: 45,XX,-7 [10]/46,XX,-7,+19 [8].More than 4 years later,the condition progressed to AML,with mutations in the SETBP1,RUNX1 and ASXL1 genes and 7q abnormality.The patient suffered from AA-MDS-AML for 9 years,accompanied by chromosome and gene mutations,which accorded with the rule of occurrence and development of myeloid neoplasms.Conclusion: At present,no case of AA transforming into MDS and then into AML has been reported in domestic literature.Here,this case is reported and the guiding significance of clonal hematopoiesis in the occurrence,transformation and prognosis of this disease is discussed by consulting and reviewing the relevant literature.