[Cytogenetic and hematologic follow-up studies in idiopathic refractory sideroblastic anemia (IRSA) (author's...

In ten patients with IRSA, chromosome analysis and bone marrow cytology were performed once or several times during 24 months. Bone marrow chromosomes from eight patients showed a normal karyotype. Two patients were found to have stable clonal chromosome aberrations (45, X,-Y[male] and 46, XX,+mar). In a median duration of 6.8 years of IRSA no patient has yet developed acute leukemia. In another ten deceased patients with IRSA no evidence of leukemia, but a carcinoma of colon and prostate were observed in a latency of 7.7 years. Three patients with symptomatic SA developed in 1-15 months an acute leukemia. Two of them showed severe instable clonal chromosome abnormalities. Distinct bone marrow abnormalities (increase of blasts, normal cellularity, reversed M:E ratio, PAS-pos. erythroblasts), thrombocytopenia, and major clonal chromosome aberrations may help to differentiate IRSA from preleukemic states with symptomatic SA.