%0 Journal Article
%T 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).
%A Cesaro S
%A Pillon M
%A Sauer M
%A Smiers F
%A Faraci M
%A de Heredia CD
%A Wynn R
%A Greil J
%A Locatelli F
%A Veys P
%A Uyttebroeck A
%A Ljungman P
%A Chevalier P
%A Ansari M
%A Badell I
%A Güngör T
%A Salim R
%A Tischer J
%A Tecchio C
%A Russell N
%A Chybicka A
%A Styczynski J
%A Krivan G
%A Smith O
%A Stein J
%A Afanasyev B
%A Pochon C
%A Menconi MC
%A Bosman P
%A Mauro M
%A Tridello G
%A de Latour RP
%A Dufour C
%J Bone Marrow Transplant
%V 55
%N 9
%D 09 2020
%M 32203264
%F 5.174
%R 10.1038/s41409-020-0863-z
%X 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.