We report an unusual case of acute myelogenous leukemia in a patient who showed an extramedullary relapse in her uterus, without bone marrow recurrence, two years after an allogeneic bone marrow transplant. She complained of irregular vaginal spotting, and magnetic resonance imaging demonstrated a uterine mass. A biopsy revealed a massive infiltration of immature myeloid cells. A variable number of tandem repeats (VNTR) based on an examination of peripheral blood cells showed full donor chimerism. After receiving chemotherapy, her uterine mass had completely resolved. She has remained in complete remission for more than 6 months. This case suggests that physicians should be aware of the possibility of a uterine relapse in female bone marrow transplant recipients with acute myelogenous leukemia.
Adult ; Female ; Hematopoietic Stem Cell Transplantation/*adverse effects ; Human ; Leukemia, Myelocytic, Acute/*pathology/*therapy ; Neoplasm Recurrence, Local ; Sarcoma, Granulocytic/etiology/*pathology ; Uterine Neoplasms/etiology/*pathology

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine) and reached complete remission of leukemia. After induction chemotherapy, she underwent allogeneic bone marrow transplantation (BMT). The BMT preparative regimen consisted of total body irradation (TBI) followed by cyclophosphamide. Cyclosporin A and short term methotrexate were used for graft-versus-host disease prophylaxis. After a follow-up of 12 months, she is alive leukemia free off any immunosuppressive agent. Although experience in this field is scarce, we speculate that bone marrow failure in SDS is an indication for BMT which is the only curative trentment option.
Adult ; *Bone Marrow Transplantation ; Case Report ; *Cell Transformation, Neoplastic ; Female ; Human ; Leukemia, Myelocytic, Acute/*pathology/*therapy ; Myelodysplastic Syndromes/*complications/*therapy ; Pancreatic Insufficiency/complications/therapy ; Syndrome ; Transplantation, Homologous

We describe a case with acute myelogenous leukemia (AML; M2) who developed prolonged marrow hypoplasia with residual leukemic blasts and recurrent infections after induction chemotherapy. He was treated successfully with a sequential treatment of recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) and low-dose cytosine arabinoside (LD AraC). To the best of our knowledge this is the first reported case of a successful treatment of a patient with AML, who showed prolonged markedly hypocellular bone marrow with significant residual leukemic cells after induction chemotherapy, with a sequential treatment of GM-CSF and LD AraC.
Bone Marrow Diseases/chemically induced/*drug therapy ; Case Report ; Cytarabine/*administration & dosage ; Granulocyte-Macrophage Colony-Stimulating Factor/*therapeutic use ; Human ; Leukemia, Myelocytic, Acute/*drug therapy/pathology ; Male ; Middle Age