title: Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.
abstract: We describe outcomes after allogeneic transplantation in 34 patients with dyskeratosis congenita who underwent transplantation between 1981 and 2009. The median age at transplantation was 13 years (range, 2 to 35). Approximately 50% of transplantations were from related donors. Bone marrow was the predominant source of stem cells (24 of 34). The day-28 probability of neutrophil recovery was 73% and the day-100 platelet recovery was 72%. The day-100 probability of grade II to IV acute GVHD and the 3-year probability of chronic graft-versus-host disease were 24% and 37%, respectively. The 10-year probability of survival was 30%; 14 patients were alive at last follow-up. Ten deaths occurred within 4 months from transplantation because of graft failure (n = 6) or other transplantation-related complications; 9 of these patients had undergone transplantation from mismatched related or from unrelated donors. Another 10 deaths occurred after 4 months; 6 of them occurred more than 5 years after transplantation, and 4 of these were attributed to pulmonary failure. Transplantation regimen intensity and transplantations from mismatched related or unrelated donors were associated with early mortality. Transplantation of grafts from HLA-matched siblings with cyclophosphamide-containing nonradiation regimens was associated with early low toxicity. Late mortality was attributed mainly to pulmonary complications and likely related to the underlying disease.
authors.affiliation: Clinical Genetic Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
authors.forename: Shahinaz M
authors.initials: SM
authors.lastname: Gadalla
authors.forename: Carmem
authors.initials: C
authors.lastname: Sales-Bonfim
authors.forename: Jeanette
authors.initials: J
authors.lastname: Carreras
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
authors.forename: Joseph H
authors.initials: JH
authors.lastname: Antin
authors.forename: Mouhab
authors.initials: M
authors.lastname: Ayas
authors.forename: Prasad
authors.initials: P
authors.lastname: Bodhi
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Davis
authors.forename: Stella M
authors.initials: SM
authors.lastname: Davies
authors.forename: Eric
authors.initials: E
authors.lastname: Deconinck
authors.forename: H Joachim
authors.initials: HJ
authors.lastname: Deeg
authors.forename: Reggie E
authors.initials: RE
authors.lastname: Duerst
authors.forename: Anders
authors.initials: A
authors.lastname: Fasth
authors.forename: Ardeshir
authors.initials: A
authors.lastname: Ghavamzadeh
authors.forename: Neelam
authors.initials: N
authors.lastname: Giri
authors.forename: Frederick D
authors.initials: FD
authors.lastname: Goldman
authors.forename: E Anders
authors.initials: EA
authors.lastname: Kolb
authors.forename: Robert
authors.initials: R
authors.lastname: Krance
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
authors.forename: Wing H
authors.initials: WH
authors.lastname: Leung
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.forename: Reuven
authors.initials: R
authors.lastname: Or
authors.forename: Carol M
authors.initials: CM
authors.lastname: Richman
authors.forename: Philip S
authors.initials: PS
authors.lastname: Rosenberg
authors.forename: Jose Sanchez de
authors.initials: JS
authors.lastname: Toledo Codina
authors.forename: Shalini
authors.initials: S
authors.lastname: Shenoy
authors.forename: Gerard
authors.initials: G
authors.lastname: Socié
authors.forename: Jakub
authors.initials: J
authors.lastname: Tolar
authors.forename: Kirsten M
authors.initials: KM
authors.lastname: Williams
authors.forename: Mary
authors.initials: M
authors.lastname: Eapen
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000601:surgery* / Q000628:therapy; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D016019:Survival Analysis; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D055815:Young Adult
keywords: Allogeneic transplantation; Dyskeratosis congenita; Long-term survival; Pulmonary toxicity