TY - JOUR
T1 - 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)
AU - Cesaro, Simone
AU - Pillon, Marta
AU - Sauer, Martin
AU - Smiers, Frans
AU - Faraci, Maura
AU - De Heredia, Cristina Diaz
AU - Wynn, Robert
AU - Greil, Johann
AU - Locatelli, Franco
AU - Veys, Paul
AU - Uyttebroeck, Anne
AU - Ljungman, Per
AU - Chevalier, Patrice
AU - Ansari, Marc
AU - Badell, Isabel
AU - Güngör, Tayfun
AU - Salim, Rahuman
AU - Tischer, Johanna
AU - Tecchio, Cristina
AU - Russell, Nigel
AU - Chybicka, Alicja
AU - Styczynski, Jan
AU - Krivan, Gergely
AU - Smith, Owen
AU - Stein, Jerry
AU - Afanasyev, Boris
AU - Pochon, Cécile
AU - Menconi, Maria Cristina
AU - Bosman, Paul
AU - Mauro, Margherita
AU - Tridello, Gloria
AU - De Latour, Regis Peffault
AU - Dufour, Carlo
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - HSCT
KW - HSCT
UR - http://hdl.handle.net/10807/229482
U2 - 10.1038/s41409-020-0863-z
DO - 10.1038/s41409-020-0863-z
M3 - Article
SN - 0268-3369
VL - 55
SP - 1796
EP - 1809
JO - Bone Marrow Transplantation
JF - Bone Marrow Transplantation
ER -