Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman–Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT)

Simone Cesaro, Marta Pillon, Martin Sauer, Frans Smiers, Maura Faraci, Cristina Diaz de Heredia, Robert Wynn, Johann Greil, Franco Locatelli, Paul Veys, Anne Uyttebroeck, Per Ljungman, Patrice Chevalier, Marc Ansari, Isabel Badell, Tayfun Güngör, Rahuman Salim, Johanna Tischer, Cristina Tecchio, Nigel RussellAlicja Chybicka, Jan Styczynski, Gergely Krivan, Owen Smith, Jerry Stein, Boris Afanasyev, Cécile Pochon, Maria Cristina Menconi, Paul Bosman, Margherita Mauro, Gloria Tridello, Regis Peffault de Latour, Carlo Dufour

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Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative procedure in patients with Shwachman–Diamond syndrome (SDS) with bone marrow abnormalities. The results of 74 patients with SDS (6 acute myeloid leukemia, 7 myelodysplastic syndrome, and 61 bone marrow failure) treated with HSCT between 1988 and 2016 are reported. The donor source was: 24% sibling, 8% parent, and 68% unrelated donor. The stem cell source was: 70% bone marrow, 19% peripheral blood stem cells, and 11% cord blood. The conditioning regimen was myeloablative in 54% and reduced intensity in 46%. Neutrophil engraftment was achieved in 84% of patients after a median time of 17.5 days. Graft failure occurred in 15% of HSCTs. Grades I–IV acute and chronic GVHD were observed in 55% and 20% of patients, respectively. After a median follow-up of 7.3 years (95% CI 4.8–10.2), 28 patients died for progression/relapse (7) or toxicity (21). The 5-year overall survival and nonrelapse mortality were 63.3% (95% CI 50.8–73.4) and 19.8% (95% CI 10.8–30.8), respectively. In conclusion, this is the largest series so far reported and confirms that HSCT is a suitable option for patients with SDS. Further efforts are needed to lower transplant-related toxicity and reduce graft failure.

Original languageAmerican English
Pages (from-to)1796-1809
Number of pages14
JournalBone Marrow Transplantation
Volume55
Issue number9
DOIs
Publication statusPublished - 1 Sep 2020

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    Cesaro, S., Pillon, M., Sauer, M., Smiers, F., Faraci, M., de Heredia, C. D., Wynn, R., Greil, J., Locatelli, F., Veys, P., Uyttebroeck, A., Ljungman, P., Chevalier, P., Ansari, M., Badell, I., Güngör, T., Salim, R., Tischer, J., Tecchio, C., ... Dufour, C. (2020). Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman–Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT). Bone Marrow Transplantation, 55(9), 1796-1809. https://doi.org/10.1038/s41409-020-0863-z