title: Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation.
abstract: The use of HSCT is the only potentially curative treatment for CAMT, but access is limited by the availability of suitable donors. We report five consecutive patients with CAMT who received MAC and partially HLA-mismatched, UCBT (unrelated, n = 4). Median times to neutrophil (>500/μL) and platelet (≥20 000 and ≥50 000/μL) engraftment were 19, 57, and 70 days, respectively. Acute GvHD, grade II, developed in one patient, who subsequently developed limited chronic GvHD. At median follow-up of 14 yr, all patients are alive with sustained donor cell engraftment. To our knowledge, this is the largest single-center series of UCBT for patients with this disease and suggests that UCBT is a successful curative option for patients with CAMT.
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Kris M
authors.initials: KM
authors.lastname: Mahadeo
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Priti
authors.initials: P
authors.lastname: Tewari
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Suhag H
authors.initials: SH
authors.lastname: Parikh
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Timothy A
authors.initials: TA
authors.lastname: Driscoll
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Kristin
authors.initials: K
authors.lastname: Page
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Paul L
authors.initials: PL
authors.lastname: Martin
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
authors.affiliation: Blood and Marrow and Transplantation Program, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Vinod K
authors.initials: VK
authors.lastname: Prasad
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D005500:Follow-Up Studies; D006086:Graft vs Host Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013921:Thrombocytopenia / Q000097:blood / Q000628:therapy*; D019172:Transplantation Conditioning; D016896:Treatment Outcome
keywords: congenital amegakaryocytic thrombocytopenia; cord blood transplantation; hematopoietic stem cell transplantation; thrombocytopenia