Myelodysplastic syndrome associated with hypotriploidy.

We describe a case of de novo myelodysplastic syndrome (MDS) with hypotriploidy, a condition in which polypoid chromosome abnormalities are rarely observed. A 64-year-old male was diagnosed with refractory anemia 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 transformation was observed in spite of a hematological improvement obtained by therapy with corticosteroids, anabolic steroids and pyridoxine. Two months after the diagnosis of RARS, he died of multiple organ failure. In our case, the hypotriploid chromosome abnormality may have represented a poor prognosis.