Korean J Intern Med.  2002 Sep;17(3):204-206.

Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation: A Case Report

• Park SY
• Chae MB
• Kwack YG
• Lee MH
• Kim IH
• Kim YS
• Kim CS

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 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.

Keyword

Shwachman-Diamond syndrome; Bone marrow transplantation; Acute myeloid leukemia

MeSH Terms

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