title: Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation.
abstract: This report assessed the results of allogeneic stem cell transplantation (allo-SCT) in 26 patients with Shwachman-Diamond disease (SDS) and severe bone marrow abnormalities. The conditioning regimen was based on busulphan (54%), total body irradiation (23%), fludarabine (15%) or other chemotherapy combinations (8%). Standard prevention of graft versus host disease (GVHD) with cyclosporin +/- methotrexate was adopted in 54% of the patients whilst in vivo or in vitro T-cell depletion was used in 17 and four patients respectively. Neutrophil and platelet engraftment were achieved in 21 (81%) and 17 (65%) of 26 patients after a median time of 18 days and 29 days respectively. The incidence of grade III and IV acute GVHD was 24% and of chronic GVHD 29%. Nine patients died after a median time of 70 d, post-SCT. After a median follow-up of 1.1 years, the transplant-related mortality was 35.5% (95% CI 17-54) whilst the overall survival was 64.5% (95% CI 45.7-83.2). Allo-SCT was found to be successful in more than half of SDS patients with severe bone marrow dysfunction. Further improvements would be anticipated by a better definition of the optimum time in the course of disease to transplant and by the adoption of less toxic conditioning regimens.
authors.affiliation: Department of Pediatrics, Clinic of Paediatric Haematology Oncology, University of Padova, Italy. simone.cesaro@unipd.it
authors.forename: Simone
authors.initials: S
authors.lastname: Cesaro
authors.forename: Rosi
authors.initials: R
authors.lastname: Oneto
authors.forename: Chiara
authors.initials: C
authors.lastname: Messina
authors.forename: Brenda E
authors.initials: BE
authors.lastname: Gibson
authors.forename: Agnes
authors.initials: A
authors.lastname: Buzyn
authors.forename: Colin
authors.initials: C
authors.lastname: Steward
authors.forename: Eliane
authors.initials: E
authors.lastname: Gluckman
authors.forename: Robbert
authors.initials: R
authors.lastname: Bredius
authors.forename: Robbert
authors.initials: R
authors.lastname: Breddius
authors.forename: Marc
authors.initials: M
authors.lastname: Boogaerts
authors.forename: Christiane
authors.initials: C
authors.lastname: Vermylen
authors.forename: Paul
authors.initials: P
authors.lastname: Veys
authors.forename: Judith
authors.initials: J
authors.lastname: Marsh
authors.forename: Isabel
authors.initials: I
authors.lastname: Badell
authors.forename: Gerard
authors.initials: G
authors.lastname: Michel
authors.forename: Tayfun
authors.initials: T
authors.lastname: Güngör
authors.forename: Dietrich
authors.initials: D
authors.lastname: Niethammer
authors.forename: Pierre
authors.initials: P
authors.lastname: Bordigoni
authors.forename: Cecilia
authors.initials: C
authors.lastname: Oswald
authors.forename: Claudio
authors.initials: C
authors.lastname: Favre
authors.forename: Jakob
authors.initials: J
authors.lastname: Passweg
authors.forename: Giorgio
authors.initials: G
authors.lastname: Dini
mesh_terms: D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000601:surgery*; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000601:surgery*; D005260:Female; D006086:Graft vs Host Disease; D006130:Growth Disorders / Q000601:surgery*; D006402:Hematologic Diseases / Q000601:surgery*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D013577:Syndrome; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous; D016896:Treatment Outcome