melphalan and Shwachman-Diamond-Syndrome

Outcomes of patients with Shwachman-Diamond syndrome (SDS) who developed myeloid malignancies are poor because of refractory disease and high hematopoietic stem cell transplantation-related mortality. We herein report a case of a 7-year-old girl with SDS who developed acute myeloid leukemia with monosomy 7. She was successfully treated with chemotherapy followed by unrelated cord blood transplantation with reduced-intensity conditioning consisting of fludarabine, melphalan, and high-dose cytarabine without significant toxicity. Reduced-intensity conditioning presented in this report might be a preferable option for SDS patients with acute myeloid leukemia, although further evaluation in a larger number of similar cases is necessary.

Topics: Antineoplastic Agents, Alkylating; Child; Cytarabine; Female; Fetal Blood; Humans; Immunosuppressive Agents; Leukemia, Myeloid, Acute; Melphalan; Myeloablative Agonists; Shwachman-Diamond Syndrome; Transplantation Conditioning; Vidarabine