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Bone Marrow Transplant. 1995 Nov;16(5):717-8.

Shwachman-Diamond syndrome and matched unrelated donor BMT.

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Department of Paediatric Haematology and Oncology, Great Ormond Street Hospital for Children NHS Trust, London, UK.


A 5 year old with Shwachman-Diamond syndrome (SDS) developed acute monoblastic leukaemia following a period of myelodysplasia associated with a clonal cytogenetic abnormality involving chromosome 7. Matched unrelated BMT was carried out using standard CY/TBI conditioning and GVHD prophylaxis protocols. The patient experienced no toxicity, had temporary committed progenitor cell engraftment but eventually died from bone marrow failure 1 year post-transplant. This report, to our knowledge, documents the first reported case of matched unrelated donor BMT for SDS/AML and we speculate that standard conditioning regimens are probably safe in this group of patients.

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