Abstract
We describe a 15-year-old girl who was initially diagnosed as having primary aquired sideroblastic anemia (PASA) with chromosome abnormalities and who developed leukemia 6 months later. At the onset of the disease, mild leukopenia and moderate anemia and thrombocytopenia were noted in peripheral blood (PB). The bone marrow (BM) smear exhibited 67 % of ring sideroblasts without excess of blasts, and 3-aminolevulinic acid synthetase (ALA-S) activity of erythroblasts in BM was decreased. Chromosome analysis of BM cells showed-5, -17, -18, -19, +i (17q), +der (19) t (18; 19) (q 11; p13). These findings supported a compatible diagnosis of PASA with chromosomal abnormalities. A T-cell and B-cell line derived from PB of this patient showed normal karyotypes. Transient improvement of pancytopenia was obtained by small-dose Ara-C therapy; however, acute myelomonocytic leukemia developed 6 months after the onset of PASA. The blasts were positive for peroxidase, nonspecific esterase, and chloroacetate esterase, and expressed CD13, CD14, and CD33 antigens. Chromosome analysis revealed increased populations of tetraploid clones with the specific abnormalities observed during the stage of PASA.
