Abstract
We report a case of Ph1-positive myelodysplastic syndrome (MDS) which was supposed to evolve into aplastic anemia. In February 1986, a 6-year-old girl was referred to our hospital because of a bleeding tendency. Peripheral blood pancytopenia and hypercellular bone marrow with myelodysplastic changes indicated a diagnosis of MDS. Cytogenetic study of bone marrow cells revealed t (9; 22) in one of 7 metaphasic cells. Four years after onset, progressive pancytopenia compatible to severe type of aplastic anemia and hypoplastic bone marrow were observed. At that time no myelodysplastic change or Ph1 chromosome could be detected. She underwent bone marrow transplantation (BMT) from an HLA-matched sibling and has been in continuous complete remission 30 months after the BMT. This may be the first report of Phi-positive childhood MDS which developed into aplastic anemia.
