title: Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience.
abstract: Although allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative treatment for patients with Fanconi anemia (FA), published series mostly refer to single-center experience with limited numbers of patients. We analyzed results in 795 patients with FA who underwent first HSCT between May 1972 and January 2010. With a 6-year median follow-up, overall survival was 49% at 20 years (95% confidence interval, 38-65 years). Better outcome was observed for patients transplanted before the age of 10 years, before clonal evolution (ie, myelodysplastic syndrome or acute myeloid leukemia), from a matched family donor, after a conditioning regimen without irradiation, the latter including fludarabine. Chronic graft-versus-host disease and secondary malignancy were deleterious when considered as time-dependent covariates. Age more than 10 years at time of HSCT, clonal evolution as an indication for transplantation, peripheral blood as source of stem cells, and chronic graft-versus-host disease were found to be independently associated with the risk for secondary malignancy. Changes in transplant protocols have significantly improved the outcome of patients with FA, who should be transplanted at a young age, with bone marrow as the source of stem cells.
authors.affiliation: Service d'Hématologie Greffe and.
authors.forename: Régis
authors.initials: R
authors.lastname: Peffault de Latour
authors.forename: Raphael
authors.initials: R
authors.lastname: Porcher
authors.forename: Jean-Hugues
authors.initials: JH
authors.lastname: Dalle
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Aljurf
authors.forename: Elisabeth T
authors.initials: ET
authors.lastname: Korthof
authors.forename: Johanna
authors.initials: J
authors.lastname: Svahn
authors.forename: Roelof
authors.initials: R
authors.lastname: Willemze
authors.forename: Cristina
authors.initials: C
authors.lastname: Barrenetxea
authors.forename: Valerie
authors.initials: V
authors.lastname: Mialou
authors.forename: Jean
authors.initials: J
authors.lastname: Soulier
authors.forename: Mouhab
authors.initials: M
authors.lastname: Ayas
authors.forename: Rosi
authors.initials: R
authors.lastname: Oneto
authors.forename: Andrea
authors.initials: A
authors.lastname: Bacigalupo
authors.forename: Judith C W
authors.initials: JC
authors.lastname: Marsh
authors.forename: Christina
authors.initials: C
authors.lastname: Peters
authors.forename: Gerard
authors.initials: G
authors.lastname: Socie
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005060:Europe; D005199:Fanconi Anemia / Q000401:mortality* / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D006086:Graft vs Host Disease / Q000401:mortality; D019337:Hematologic Neoplasms / Q000401:mortality; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000401:mortality*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D016016:Proportional Hazards Models; D012189:Retrospective Studies; D014184:Transplantation, Homologous; D055815:Young Adult