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.

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., Gungor, T., Salim, R., Tischer, J., Tecchio, C., Russell, N., Chybicka, A., Styczynski, J., Krivan, G., Smith, O., Stein, J., Afanasyev, B., Pochon, C., Menconi, M. C., Bosman, P., Mauro, M., Tridello, G., De Latour, R. P., Dufour, C., 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>>, 2020; 55 (9): 1796-1809. [doi:10.1038/s41409-020-0863-z] [https://hdl.handle.net/10807/229482]

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)

Locatelli, Franco
Writing – Review & Editing
;
2020

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.
2020
Inglese
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., Gungor, T., Salim, R., Tischer, J., Tecchio, C., Russell, N., Chybicka, A., Styczynski, J., Krivan, G., Smith, O., Stein, J., Afanasyev, B., Pochon, C., Menconi, M. C., Bosman, P., Mauro, M., Tridello, G., De Latour, R. P., Dufour, C., 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>>, 2020; 55 (9): 1796-1809. [doi:10.1038/s41409-020-0863-z] [https://hdl.handle.net/10807/229482]
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