title: Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature.
abstract: CAMT is a bone marrow failure syndrome that usually presents with isolated thrombocytopenia soon after birth. HSCT is curative, and MAC is associated with increased transplant-related morbidity and mortality, especially in the unrelated setting. We used a RIC regimen with alemtuzumab, fludarabine, and melphalan in a seven-month-old patient with CAMT who underwent a MUD HSCT. The transplant was well tolerated with few complications. Neutrophil and platelet engraftment occurred on day +12 and +29, respectively, and she had 100% donor chimerisms on days +19.
authors.affiliation: Department of Hematology/Oncology/BMT, Nationwide Children's Hospital, Ohio State University, Columbus, OH, USA.
authors.forename: Gary
authors.initials: G
authors.lastname: Woods
authors.forename: Rajinder P S
authors.initials: RP
authors.lastname: Bajwa
authors.forename: Melissa J
authors.initials: MJ
authors.lastname: Rose
mesh_terms: D000074323:Alemtuzumab; D061067:Antibodies, Monoclonal, Humanized / Q000008:administration & dosage; D001792:Blood Platelets / Q000166:cytology; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006504:Hepatic Veno-Occlusive Disease / Q000150:complications; D006801:Humans; D007223:Infant; D008558:Melphalan / Q000008:administration & dosage; D008775:Methylprednisolone / Q000008:administration & dosage; D052016:Mucositis / Q000150:complications; D009504:Neutrophils / Q000166:cytology; D013921:Thrombocytopenia / Q000628:therapy*; D019172:Transplantation Conditioning / Q000379:methods*; D014740:Vidarabine / Q000008:administration & dosage / Q000031:analogs & derivatives
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D000074323:Alemtuzumab; D014740:Vidarabine; C024352:fludarabine; D008558:Melphalan; D008775:Methylprednisolone
keywords: MPL gene mutation; congenital amegakaryocytic thrombocytopenia; hematopoietic stem cell transplant; matched-unrelated donor; reduced intensity conditioning