Shwachman-Diamond syndrome and matched unrelated donor BMT

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

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Diseases / complications*
  • Bone Marrow Transplantation*
  • Child, Preschool
  • Dysostoses / complications*
  • Exocrine Pancreatic Insufficiency / complications*
  • Humans
  • Leukemia, Monocytic, Acute / therapy
  • Male
  • Syndrome