Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome. Biol Blood Marrow Transplant 2020 Aug;26(8):1446-1451
Date
05/20/2020Pubmed ID
32428734Pubmed Central ID
PMC7371524DOI
10.1016/j.bbmt.2020.04.029Scopus ID
2-s2.0-85086565275 (requires institutional sign-in at Scopus site) 23 CitationsAbstract
We report the outcomes of hematopoietic stem cell transplantation (HSCT) for 52 patients with Shwachman-Diamond syndrome (SDS) who underwent transplantation between 2000 and 2017. The median age at transplantation was 11 years, and the median duration of follow-up was 60 months. The indication for HSCT was bone marrow failure (BMF; cytopenia or aplastic anemia) in 39 patients and myelodysplasia (MDS)/acute myelogenous leukemia (AML) in 13 patients. The donor type was an HLA-matched sibling for 18 patients, an HLA-matched or mismatched relative for 6 patients, and an HLA-matched or mismatched unrelated donor for 28 patients. Preparative regimens for BMF were myeloablative in 13 patients and reduced intensity in 26. At the time of this report, 29 of the 39 patients with BMF were alive, and the 5-year overall survival was 72% (95% confidence interval, 57% to 86%). Graft failure and graft-versus-host disease were the predominant causes of death. Preparative regimens for patients with MDS/AML were myeloablative in 8 and reduced intensity in 5. At the time of this report, only 2 of 13 patients were alive (15%), with relapse the predominant cause of death. Survival after transplantation for SDS-related BMF is better compared with historical reports, but strategies are needed to overcome graft failure and graft-versus-host disease. For SDS- related MDS or AML, transplantation does not extend survival. Rigorous surveillance and novel treatments for leukemia are urgently needed.
Author List
Myers K, Hebert K, Antin J, Boulad F, Burroughs L, Hofmann I, Kamble R, MacMillan ML, Eapen MAuthor
Mary Eapen MBBS, DCh, MRCPI, MS Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Graft vs Host DiseaseHematopoietic Stem Cell Transplantation
Humans
Transplantation Conditioning
Transplantation, Homologous
Unrelated Donors