Detection of minimal residual disease in a patient having acute myelogenous leukemia with t(16;21)(p11;q22) treated by allogeneic bone marrow transplantation

A 29-year-old woman having acute myelogeneous leukemia-M1 subtype with the chromosomal abnormality t(16;21)(p11;q22) is presented. Complete blood coun t at onset showed a hemoglobin level of 7.2 g/dl, a platelet count of 48 x 10(9)/l, and a white blood cell count of 161.2 x 10(9)/l with 99% blasts an d 1% lymphocytes. Bone marrow aspiration revealed massive proliferation of blasts that were positive for CD13, CD33, CD34, CD56 and myeloperoxidase, a nd negative for other T-cell, B-cell and monocytic markers. After achieving complete remission following conventional chemotherapy, she received an HL A-matched bone marrow transplantation (BMT) from her sibling after conditio ning with busulfan, etoposide and cyclophosphamide. However, 9 months later , the leukemia relapsed as a painful extramedullary mass in her left femur. In spite of intensive re-induction chemotherapy, she died of progressive d isease and sepsis. Although we could not detect the TLS/FUS-ERG fusion tran scripts by reverse transcriptase-polymerase chain reaction in pre-BMT remis sion phase, they were clearly detectable in bone marrow cells obtained 6 mo nths after transplantation with no translocation detected by conventional c ytogenetics. We consider that even high-dose chemotherapy with BMT may not be effective in the eradication of this type of leukemia, and that the dete ction of minimal residual disease possibly contributes to the better planni ng of the therapeutic strategy. Copyright (C) 2001 S. Karger AG, Basel.