Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7

Pediatr Blood Cancer. 2005 Aug;45(2):212-6. doi: 10.1002/pbc.20332.

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome that has the potential to progress to pancytopenia and acute myeloid leukemia. Hematopoietic stem-cell transplantation (HSCT) is presently the only curative treatment approach. We used a reduced intensity transplantation regimen in a CAMT patient with aplastic anemia and monosomy 7 who had no matched related donor. The patient had rapid and durable engraftment with minimal complications and is well 24 months post-transplantation. Thus, reduced intensity conditioning might be a feasible approach to stem-cell transplantation in patients with CAMT who do not have a related donor and who are at increased risk of toxicity from standard conditioning regimens.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anemia, Hypoplastic, Congenital / therapy*
  • Child
  • Chromosomes, Human, Pair 7
  • Female
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Megakaryocytes
  • Monosomy
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / therapy*
  • Transplantation Conditioning / methods*