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)

被引：0
作者：
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 Russell
Alicja 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
机构：
[1] Azienda Ospedaliera Universitaria Integrata,Paediatric Haematology Oncology
[2] University of Padova,Clinica di Oncoematologia Pediatrica
[3] Hannover Medical University,Department of Pediatric Hematology and Oncology
[4] Leiden University Hospital,IRRCS Ospedale Pediatrico Bambino Gesù
[5] G. Gaslini Research Institute (IRRCS),Pediatric Oncology Hematology Unit, Department of Mother, Child and Adolescent
[6] Hospital Universitari Vall d’Hebron,Department of Internal Medicine III
[7] Central Manchester NHS Trust,Hematology and Bone Marrow Transplant Unit, Department of Medicine
[8] University of Heidelberg,undefined
[9] Sapienza University,undefined
[10] Great Ormond Street Hospital for Children NHS Foundation Trust,undefined
[11] University Hospital Leuven,undefined
[12] Karolinska University Hospital,undefined
[13] CHU Nantes,undefined
[14] University Hospital of Geneva,undefined
[15] Hospital de la Santa Creu i Sant Pau,undefined
[16] University Children’s Hospital,undefined
[17] Royal Liverpool University Hospital,undefined
[18] University Hospital of Munich-Grosshadern,undefined
[19] LMU,undefined
[20] University of Verona,undefined
[21] Nottingham University,undefined
[22] Wroclaw Medical University,undefined
[23] Collegium Medicum,undefined
[24] Nicolaus Copernicus University Torun,undefined
[25] Central Hospital of Southern Pest—National Institute of Hematology and Infectious Diseases,undefined
[26] Our Lady’s Children’s Hospital,undefined
[27] Schneider Children’s Medical Center of Israel,undefined
[28] First State Pavlov Medical University of St,undefined
[29] Hopital d’Enfants,undefined
[30] Azienda Ospedaliera Universitaria Pisa,undefined
[31] EBMT Data Office,undefined
[32] Hopital St. Louis,undefined
来源：
Bone Marrow Transplantation | 2020年 / 55卷
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摘要：
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.
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页码：1796 / 1809
页数：13
相关论文
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