Abnormal Cytogenetic Clones In Patients With Aplastic Anaemia:Clinical Characteristics And Prognosis

Objective To explore clinical characteristics, response to immunosuppressive therapy and prognosis of AA patients with cytogenetic abnormalities at diagnosis.Methods The characteristics and clinical outcome of22AA patients with cytogenetic abnormalities at diagnosis were analysed retrospectively.Results Cytogenetic abnormalities of22patients included trisomy8(n=5), the lack of sex chromosomes (-X or-Y)(n=3), super diploid(n=3), structural chromosome ectopic (n=11), the chromosomes involved are different. The clinical and laboratory features of those patients were similar to conventional AA with normal cytogenetics, onset age7-65(median age18). Immunosuppressive therapy in patients with16cases, the overall response rate was75%, none of20patients developed MDS/AML (follow up:1～15years).Conclusions Abnormal cytogenetics can appear in SAA and NSAA patients at diagnosis. No significant differences in survival or later clonal disorders were observed between patients with a normal karyotype and those with an abnormal karyotype.In some patients the abnormal clone disappeared after treatment.There was no significant correlation on disappearance of the abnormal clone and response to immunosuppressive therapy.Different types of abnormal karyotype influenced different prognosis.