title: Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7.
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.
authors.affiliation: Marrow Failure and Myelodysplasia Programme, and Blood and Marrow Transplantation Section, Division of Haematology and Oncology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
authors.forename: Macgregor
authors.initials: M
authors.lastname: Steele
authors.forename: Johann
authors.initials: J
authors.lastname: Hitzler
authors.forename: John J
authors.initials: JJ
authors.lastname: Doyle
authors.forename: Manuela
authors.initials: M
authors.lastname: Germeshausen
authors.forename: Conrad V
authors.initials: CV
authors.lastname: Fernandez
authors.forename: Kim
authors.initials: K
authors.lastname: Yuille
authors.forename: Yigal
authors.initials: Y
authors.lastname: Dror
mesh_terms: D029502:Anemia, Hypoplastic, Congenital / Q000628:therapy*; D002648:Child; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D008533:Megakaryocytes; D009006:Monosomy; D013921:Thrombocytopenia / Q000151:congenital* / Q000628:therapy*; D019172:Transplantation Conditioning / Q000379:methods*