Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation

Simone Cesaro, Rosi Oneto, Chiara Messina, Brenda E Gibson, Agnes Buzyn, Colin Steward, Eliane Gluckman, Robbert Bredius, Robbert Breddius, Marc Boogaerts, Christiane Vermylen, Paul Veys, Judith Marsh, Isabel Badell, Gerard Michel, Tayfun Güngör, Dietrich Niethammer, Pierre Bordigoni, Cecilia Oswald, Claudio FavreJakob Passweg, Giorgio Dini, EBMT Severe Aplastic Anaemia and Paediatric Diseases Working Party

Research output: Contribution to journalArticle (Academic Journal)peer-review

65 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)231-6
Number of pages6
JournalBritish Journal of Haematology
Volume131
Issue number2
DOIs
Publication statusPublished - 2005

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