Allogeneic bone marrow transplantation from an unrelated donor for the treatment of chronic myelogenous leukemia in blast crisis in a patient with Kleinfelter's syndrome.

We describe the first reported Klinefelter's syndrome (KS) in which allogeneic bone marrow transplantation from an unrelated donor (UR-BMT) was performed for treatment of chronic myelogenous leukemia in blast crisis (CML-BC). A 31-year-old male patient was diagnosed as having CML-BC with KS in April 2001. The result of a bone marrow chromosomal examination were 47, XXY, t(9;22)(q34;q11). After he had been treated with chemotherapy and imatinib mesylate, he underwent UR-BMT in February 2002. After the UR-BMT, his bone marrow chromosome changed from 47, XXY, t(9;22)(q34;q11) to 46,XY and 100% donor-type chimerism was obtained. However, he relapsed on day 83 after UR-BMT. After treatment with imatinib mesylate and tapering of immunosuppressive agents, skin and liver GVHD developed and then donor-type chimerism was increased with decreased blast cells. However, the patient died due to progression of disease in October 2002.