We describe a case of de novo myelodysplastic syndrome (MDS) with hypo
triploidy, a condition in which polyploid chromosome abnormalities are
rarely observed. A 64-year-old male was diagnosed with refractory ane
mia with ring sideroblasts (RARS). Cytogenetic analysis of bone marrow
cells revealed 65,X,-Y,+2,+6,-7,+8,-9,-10,+11,-12, add(12)(p11.2),+14
,-16,-18,-19,-20, -21,-21,+3mar[11/22]/46,XY[11/22]. One month later,
rapid transformation to refractory anemia with excess of blasts in tra
nsformation was observed in spite of a hematological improvement obtai
ned by therapy with corticosteroids, anabolic steroids and pyridoxine.
Two months after the diagnosis of RARS, he died of multiple organ fai
lure. In our case, the hypotriploid chromosome abnormality may have re
presented a poor prognosis.