Hematopoietic Stem Cell Transplant for Shwachman Diamond Syndrome.

Abstract We report the outcome of hematopoietic cell transplantation for 52 patients with Shwachman-Diamond syndrome (SDS) transplanted between 2000 and 2017. The median age at transplant was 11 years with a median follow-up of 60 months. Transplant indication was bone marrow failure (BMF; cytopenia or aplastic anemia) in 39 patients and myelodysplasia or acute myeloid leukemia in 13 patients. Eighteen patients received grafts from HLA-matched siblings, 6 from HLA-matched or mismatched relatives and 28 from HLA-matched or mismatched unrelated donors. Preparative regimens for BMF were myeloablative (n=13) and reduced intensity (n=26). Twenty-nine of 39 patients with BMF are alive and the 5-year overall survival was 72% (95% CI; 57-86%). Graft failure and graft-versus-host disease were the predominant causes of death. Preparative regimens for myelodysplastic syndrome or acute myeloid leukemia were myeloablative (n=8) and reduced intensity (n=5). Only 2 of 13 patients are alive (15%) and relapse was the predominant cause of death. Survival after transplantation for SDS related BMF is better compared to historical reports but strategies are needed to overcome graft failure and graft-versus-host disease. For SDS related myelodysplastic syndrome or acute myeloid leukemia, transplantation does not extend survival. Rigorous surveillance and novel treatments for leukemia are needed urgently.