Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome

Kasiani Myers, Kyle Hebert, Joseph Antin, Farid Boulad, Lauri Burroughs, Inga Hofmann, Rammurti Kamble, Margaret L. MacMillan, Mary Eapen

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1446-1451
Number of pages6
JournalBiology of Blood and Marrow Transplantation
Volume26
Issue number8
DOIs
StatePublished - Aug 2020

Bibliographical note

Funding Information:
Financial disclosure: The Center for International Blood and Marrow Transplant Research is supported primarily by Public Health Service Grant/Cooperative Agreement 5U24-CA076518 from the National Cancer Institute (NCI), the National Heart, Lung and Blood Institute (NHLBI), and the National Institute of Allergy and Infectious Diseases; Grant 5U10HL069294 from the NHLBI and NCI; Contract HHSH250201200016C with Health Resources and Services Administration (HRSA/DHHS); and Grants N00014-15-1-0848 and N00014-16-1-2020 from the Office of Naval Research. The views expressed in this article do not reflect the official policy or position of the National Institute of Health, the Department of the Navy, the Department of Defense, HRSA, or any other agency of the US Government. Conflict of interest statement: There are no conflicts of interest to report. Financial disclosure: See Acknowledgments on page 1450.

Funding Information:
Financial disclosure: The Center for International Blood and Marrow Transplant Research is supported primarily by Public Health Service Grant/Cooperative Agreement 5U24-CA076518 from the National Cancer Institute (NCI), the National Heart, Lung and Blood Institute (NHLBI), and the National Institute of Allergy and Infectious Diseases; Grant 5U10HL069294 from the NHLBI and NCI; Contract HHSH250201200016C with Health Resources and Services Administration (HRSA/DHHS); and Grants N00014-15-1-0848 and N00014-16-1-2020 from the Office of Naval Research. The views expressed in this article do not reflect the official policy or position of the National Institute of Health, the Department of the Navy, the Department of Defense, HRSA, or any other agency of the US Government.

Publisher Copyright:
© 2020 American Society for Transplantation and Cellular Therapy

PubMed: MeSH publication types

  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

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