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Bone Marrow Transplant. 2020 Mar 19. doi: 10.1038/s41409-020-0863-z. [Epub ahead of print]

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).

Author information

1
Paediatric Haematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. simone.cesaro@aovr.veneto.it.
2
Clinica di Oncoematologia Pediatrica, University of Padova, Padova, Italy.
3
Department of Pediatric Hematology and Oncology, Hannover Medical University, Hannover, Germany.
4
Leiden University Hospital, Leiden, The Netherlands.
5
G. Gaslini Research Institute (IRRCS), Genova, Italy.
6
Hospital Universitari Vall d'Hebron, Barcelona, Spain.
7
Central Manchester NHS Trust, Manchester, UK.
8
University of Heidelberg, Heidelberg, Germany.
9
IRRCS Ospedale Pediatrico Bambino Gesù, Sapienza University, Rome, Italy.
10
Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
11
University Hospital Leuven, Leuven, Belgium.
12
Karolinska University Hospital, Stockholm, Sweden.
13
CHU Nantes, Nantes, France.
14
Pediatric Oncology Hematology Unit, Department of Mother, Child and Adolescent, University Hospital of Geneva, Geneva, Switzerland.
15
Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
16
University Children's Hospital, Zürich, Switzerland.
17
Royal Liverpool University Hospital, Liverpool, UK.
18
Department of Internal Medicine III, University Hospital of Munich-Grosshadern, LMU, Munich, Germany.
19
Hematology and Bone Marrow Transplant Unit, Department of Medicine, University of Verona, Verona, Italy.
20
Nottingham University, Nottingham, UK.
21
Wroclaw Medical University, Wraclow, Poland.
22
Collegium Medicum, Nicolaus Copernicus University Torun, Bydgoszcz, Poland.
23
Central Hospital of Southern Pest-National Institute of Hematology and Infectious Diseases, Budapest, Hungary.
24
Our Lady's Children's Hospital, Dublin, Ireland.
25
Schneider Children's Medical Center of Israel, Petach-Tikva, Israel.
26
First State Pavlov Medical University of St, Petersburg, Russia.
27
Hopital d'Enfants, Nancy, France.
28
Azienda Ospedaliera Universitaria Pisa, Pisa, Italy.
29
EBMT Data Office, Leiden, The Netherlands.
30
Paediatric Haematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
31
Hopital St. Louis, Paris, France.

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.

PMID:
32203264
DOI:
10.1038/s41409-020-0863-z

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