Trisomy 21 as the sole acquired karyotypic abnormality in acute myeloid leukemia and myelodysplastic syndrome

Abstract

We report five cases of myeloid disorders in which trisomy 21 (+ 21) was found as the sole acquired karyotypic abnormality, comprising two cases of acute myeloid leukemia (AML) and three cases of myelodysplastic syndrome (MDS). In this series, MDS patients with + 21 presented as high grade disease, which included two cases of refractory anemia with excess of blasts (RAEB) and one case of refractory anemia with excess of blasts in transformation (RAEBt), and showed rapid disease progression. Significant thrombocytopenia was observed in all three patients, and bone marrow examination showed a marked reduction in megakaryocytes. AML patients with + 21 included one case each of AML-M2 and M4. Despite the poor prognosis reported in AML patients with + 21 as the sole abnormality, the patient in our series who was able to complete intensive treatment was cured of disease. The role of + 21 in leukemogenesis is reviewed.