title: Long-term Survival, Organ Function, and Malignancy after Hematopoietic Stem Cell Transplantation for Fanconi Anemia.
abstract: We report on long-term survival in 157 patients with Fanconi anemia (FA) who survived 2 years or longer after their first transplantation with a median follow-up of 9 years. Marrow failure (80%) was the most common indication for transplantation. There were 20 deaths beyond 2 years after transplantation, with 12 of the deaths occurring beyond 5 years after transplantation. Donor chimerism was available for 149 patients: 112 (76%) reported > 95% chimerism, 27 (18%) reported 90% to 95% chimerism, and 8 (5%) reported 20% to 89% donor chimerism. Two patients have < 20% donor chimerism. The 10- and 15-year probabilities of survival were 90% and 79%, respectively. Results of multivariate analysis showed higher mortality risks for transplantations before 2003 (hazard ratio [HR], 7.87; P = .001), chronic graft-versus-host disease (GVHD) (HR, 3.80; P = .004) and squamous cell carcinoma after transplantation (HR, 38.17; P < .0001). The predominant cause of late mortality was squamous cell carcinoma, with an incidence of 8% and 14% at 10 and 15 years after transplantation, respectively, and was more likely to occur in those with chronic GVHD. Other causes of late mortality included chronic GVHD, infection, graft failure, other cancers, and hemorrhage. Although most patients are disease free and functional long term, our data support aggressive surveillance for long periods to identify those at risk for late mortality.
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil. Electronic address: carmembonfim@gmail.com.
authors.forename: Carmem
authors.initials: C
authors.lastname: Bonfim
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Lisandro
authors.initials: L
authors.lastname: Ribeiro
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Samantha
authors.initials: S
authors.lastname: Nichele
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Marco
authors.initials: M
authors.lastname: Bitencourt
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Gisele
authors.initials: G
authors.lastname: Loth
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Adriana
authors.initials: A
authors.lastname: Koliski
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Vaneuza A M
authors.initials: VAM
authors.lastname: Funke
authors.affiliation: Immunogenetics Laboratory, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Daniela V
authors.initials: DV
authors.lastname: Pilonetto
authors.affiliation: Immunogenetics Laboratory, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Noemi F
authors.initials: NF
authors.lastname: Pereira
authors.affiliation: Clinical Research Divisions, Fred Hutchinson Cancer Research Center, Seattle, Washington.
authors.forename: Mary E D
authors.initials: MED
authors.lastname: Flowers
authors.affiliation: Clinic for Pediatric Oncology, Hematology and Clinical Immunology, Children's Hospital, University Hospital of Düsseldorf, Germany.
authors.forename: Eunike
authors.initials: E
authors.lastname: Velleuer
authors.affiliation: Deutsche Fanconi-Anämie-Hilfe, Unna-Siddinghausen, Germany.
authors.forename: Ralf
authors.initials: R
authors.lastname: Dietrich
authors.affiliation: Department of Pediatrics, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Anders
authors.initials: A
authors.lastname: Fasth
authors.affiliation: Department of Stomatology, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Cassius C
authors.initials: CC
authors.lastname: Torres-Pereira
authors.affiliation: Oncology Department, Hospital Erasto Gaertner, Curitiba, Brazil.
authors.forename: Paola
authors.initials: P
authors.lastname: Pedruzzi
authors.affiliation: Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Mary
authors.initials: M
authors.lastname: Eapen
authors.affiliation: Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Pasquini
mesh_terms: D000293:Adolescent; D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D046528:Chimerism; D005199:Fanconi Anemia / Q000150:complications* / Q000401:mortality / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D006086:Graft vs Host Disease / Q000209:etiology; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods* / Q000401:mortality; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D012307:Risk Factors; D016019:Survival Analysis; D055815:Young Adult
keywords: Allogeneic transplantation; Fanconi anemia; Late effects; Survival