Abstract
Shwachman-Diamond syndrome (SDS) is a rare inherited disorder involving concomitant neutropenia and exocrine pancreatic insufficiency. About 25% of patients develop hematopoiesic malignancies. We describe a 24-year-old male patient with SDS who underwent allogeneic bone marrow transplantation (BMT) because of progression into acute myeloid leukemia (AML) following myelodysplastic syndrome (MDS). The BMT preparative regimen consisted of busulfan (16 mg/kg body wt.), followed by cyclophosphamide (120 mg/kg). Cyclosporin A and short methotrexate were used for graft-versus-host disease (GvHD) prophylaxis. The post-transplant period was complicated by staphylococcal septicemia, CMV infection, renal insufficiency, and acute GvHD grade III. Hematological recovery was delayed (post-transplant day +55). The patient was discharged at day +68 in complete remission without any evidence of MDS. RFLP fingerprint analysis showed complete engraftment of the donor's hematopoiesis. The patient's leukemia relapsed 9 months post-transplant, and death followed due to CMV infection and multiorgan failure. Despite the fatal course in this patient, allogeneic BMT could be an option for curative treatment of the hematopoietic failure in SDS. The interaction of BMT with pancreatic insufficiency still has to be ascertained.
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This manuscript contains data which have already been presented partially as a poster at the 19th Annual Meeting of the EBMT Group in Garmisch-Partenkirchen, Germany, January 17–21, 1993. The number of the corresponding camera-ready abstract is 3303. The underlying manuscript is corrected and differs from this abstract
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Arseniev, L., Diedrich, H. & Link, H. Allogeneic bone marrow transplantation in a patieni with Shwachman-Diamond syndrome. Ann Hematol 72, 83–84 (1996). https://doi.org/10.1007/BF00641313
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DOI: https://doi.org/10.1007/BF00641313