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.
Smith
O P
OP
Department of Paediatric Haematology and Oncology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Chan
M Y
MY
Evans
J
J
Veys
P
P
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