Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation.
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.
Cesaro
Simone
S
Department of Pediatrics, Clinic of Paediatric Haematology Oncology, University of Padova, Italy. simone.cesaro@unipd.it
Oneto
Rosi
R
Messina
Chiara
C
Gibson
Brenda E
BE
Buzyn
Agnes
A
Steward
Colin
C
Gluckman
Eliane
E
Bredius
Robbert
R
Breddius
Robbert
R
Boogaerts
Marc
M
Vermylen
Christiane
C
Veys
Paul
P
Marsh
Judith
J
Badell
Isabel
I
Michel
Gerard
G
Güngör
Tayfun
T
Niethammer
Dietrich
D
Bordigoni
Pierre
P
Oswald
Cecilia
C
Favre
Claudio
C
Passweg
Jakob
J
Dini
Giorgio
G
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