Shwachman-Diamond syndrome and matched unrelated donor BMT.
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.
Department of Paediatric Haematology and Oncology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
O P
OP
Smith
M Y
MY
Chan
J
J
Evans
P
P
Veys
D001855:Bone Marrow Diseases / Q000150:complications*; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D004413:Dysostoses / Q000150:complications*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D006801:Humans; D007948:Leukemia, Monocytic, Acute / Q000628:therapy; D008297:Male; D013577:Syndrome