title: The outcome of children with Fanconi anemia given hematopoietic stem cell transplantation and the influence of fludarabine in the conditioning regimen: a report from the Italian pediatric group.
abstract: OBJECTIVE
  Hematopoietic stem cell transplantation (HSCT) still represents the only treatment potentially able to prevent/rescue the development of marrow failure and myeloid malignancies in patients with Fanconi anemia (FA). While in the past HSCT from an HLA-identical sibling was proven to cure many patients, a higher incidence of treatment failure has been reported in recipients of an unrelated donor (UD) or HLA-partially matched related allograft.
  
  
  METHODS
  We analyzed the outcome of 64 FA patients (age range, 2-20 years) who underwent HSCT between January 1989 and December 2005. Patients were transplanted from either an HLA-identical sibling (n=31), an UD (n=26), or an HLA-partially matched relative (n=7). T-cell depletion of the graft was performed in patients transplanted from an HLA-disparate relative.
  
  
  RESULTS
  The 8-year estimate of overall survival (OS) for the whole cohort was 67%; it was 87%, 40% and 69% when the donor was an HLA-identical sibling, an UD and a mismatched relative, respectively (p<0.01). The outcome of recipients of grafts from an UD improved over time, the probability of survival being 10% and 72% for patients transplanted before and after 1998, respectively (p<0.05). The OS probability of children who did or did not receive fludarabine in preparation for the allograft was 86% and 59%, respectively (p<0.05).
  
  
  CONCLUSIONS
  These data, useful for counselling, provide support to the concept that a relevant proportion of FA patients undergoing HSCT can now be successfully cured, even in the absence of an HLA-identical sibling, especially if the conditioning regimen includes fludarabine.
authors.affiliation: Oncoematologia Pediatrica, Fondazione IRCCS Policlinico San Matteo e Università di Pavia, Pavia, Italy. f.locatelli@smatteo.pv.it
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.forename: Marco
authors.initials: M
authors.lastname: Zecca
authors.forename: Andrea
authors.initials: A
authors.lastname: Pession
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Morreale
authors.forename: Daniela
authors.initials: D
authors.lastname: Longoni
authors.forename: Paolo
authors.initials: P
authors.lastname: Di Bartolomeo
authors.forename: Fulvio
authors.initials: F
authors.lastname: Porta
authors.forename: Franca
authors.initials: F
authors.lastname: Fagioli
authors.forename: Bruno
authors.initials: B
authors.lastname: Nobili
authors.forename: Maria Ester
authors.initials: ME
authors.lastname: Bernardo
authors.forename: Chiara
authors.initials: C
authors.lastname: Messina
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000473:pathology* / Q000601:surgery*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007558:Italy; D008297:Male; D011336:Probability; D015996:Survival Rate; D019172:Transplantation Conditioning; D016896:Treatment Outcome; D014740:Vidarabine / Q000031:analogs & derivatives* / Q000494:pharmacology
chemical_list: D014740:Vidarabine; C024352:fludarabine