title: Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report.
abstract: 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 irratation (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 treatment option.
authors.affiliation: Department of Internal Medicine, Inha University Hospital, Inchon, 7-206, 3ga, Shinheung-dong, Choong-gu, Inchon 400-711, Korea.
authors.forename: So Young
authors.initials: SY
authors.lastname: Park
authors.forename: Min Byoung
authors.initials: MB
authors.lastname: Chae
authors.forename: Yee Gyung
authors.initials: YG
authors.lastname: Kwack
authors.forename: Moon Hee
authors.initials: MH
authors.lastname: Lee
authors.forename: Inho
authors.initials: I
authors.lastname: Kim
authors.forename: Young Soo
authors.initials: YS
authors.lastname: Kim
authors.forename: Chul Soo
authors.initials: CS
authors.lastname: Kim
mesh_terms: D000328:Adult; D016026:Bone Marrow Transplantation; D002471:Cell Transformation, Neoplastic; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000628:therapy; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000473:pathology* / Q000628:therapy*; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000628:therapy*; D013577:Syndrome; D014184:Transplantation, Homologous