title: Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).
abstract: We analyzed 97 Fanconi anemia patients from a clinic/biological database for genotype, somatic, and hematologic phenotype, adverse hematological events, solid tumors, and treatment. Seventy-two patients belonged to complementation group A. Eighty percent of patients presented with mild/moderate somatic phenotype and most with cytopenia. No correlation was seen between somatic/hematologic phenotype and number of missense mutations of FANCA alleles. Over follow-up, 33% of patients improved or maintained mild/moderate cytopenia or normal blood count, whereas remaining worsened cytopenia. Eleven patients developed a hematological adverse event (MDS, AML, pathological cytogenetics) and three developed solid tumors. 10 years cumulative risk of death of the whole cohort was 25.6% with median follow-up 5.8 years. In patients eligible to hematopoietic stem cell transplantation because of moderate cytopenia, mortality was significantly higher in subjects transplanted from matched unrelated donor over nontransplanted subjects, whereas there was no significant difference between matched sibling donor transplants and nontransplanted patients. In patients eligible to transplant because of severe cytopenia and clonal disease, mortality risk was not significantly different in transplanted from matched unrelated versus matched sibling donor versus nontransplanted subjects. The decision to transplant should rely on various elements including, type of donor, HLA matching, patient comorbidities, impairment, and clonal evolution of hematopoiesis. Am. J. Hematol. 91:666-671, 2016. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Hematology Unit, Gaslini Institute, Genova, Italy.
authors.forename: Johanna
authors.initials: J
authors.lastname: Svahn
authors.affiliation: Epidemiology and Statistics, Gaslini Institute, Genova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Bagnasco
authors.affiliation: Hematology Unit, Gaslini Institute, Genova, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Cappelli
authors.affiliation: Pediatric Onco-Hematology, Hospital of Pescara, Pescara, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Onofrillo
authors.affiliation: Epidemiology and Statistics, Gaslini Institute, Genova, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Caruso
authors.affiliation: Cell Repository and Bio Bank, Gaslini Institute, Genova, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Corsolini
authors.affiliation: Medical Genetics, Burlo Garofalo Institute, Trieste, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: De Rocco
authors.affiliation: Medical Genetics, Burlo Garofalo Institute, Trieste, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
authors.affiliation: Pediatric Hematology, San Gerardo Hospital, Monza, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Longoni
authors.affiliation: Pediatric Hemato-Oncology, University of Padova, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Pillon
authors.affiliation: Pediatric Hematology, Pausillipon Hospital, Napoli, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Marra
authors.affiliation: Pediatric Hematology, Regina Margherita Hospital, Torino, Italy.
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.affiliation: Pediatric Hematology-Oncology, a.R.N.A.S. Civico Fatebenefratelli, Palermo, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Farruggia
authors.affiliation: Pediatric Hematology, San Camillo- Forlanini Hospital, Rome, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Locasciulli
authors.affiliation: Bone Marrow Transplantation Unit, Hospital of Microcytemia, Cagliari, Italy.
authors.forename: Carmen
authors.initials: C
authors.lastname: Addari
authors.affiliation: Pediatric Onco-Hematology, Hospital of Perugia, Perugia, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Cerri
authors.affiliation: Pediatric Onco-Hematology, Hospital of Perugia, Perugia, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Mastrodicasa
authors.affiliation: Pediatric Onco-Hematology, Hospital of Pisa, Pisa, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Casazza
authors.affiliation: Pediatric Onco-Hematology Burlo Garofalo Institute, Trieste, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Verzegnassi
authors.affiliation: Hematology Unit, Gaslini Institute, Genova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Riccardi
authors.affiliation: Epidemiology and Statistics, Gaslini Institute, Genova, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Haupt
authors.affiliation: Pediatric Onco-Hematology, Hospital of Parma, Parma, Italy.
authors.forename: Angelica
authors.initials: A
authors.lastname: Barone
authors.affiliation: Pediatric Onco-Hematology Hospital of Verona, Verona, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Cesaro
authors.affiliation: Pediatric Onco-Hematology, San Matteo Hospital, Pavia, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Cugno
authors.affiliation: Hematology Unit, Gaslini Institute, Genova, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003657:Decision Making; D005199:Fanconi Anemia / Q000401:mortality / Q000628:therapy*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods* / Q000401:mortality; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D010198:Pancytopenia / Q000139:chemically induced; D010641:Phenotype; D035781:Siblings; D014019:Tissue Donors; D016896:Treatment Outcome; D055815:Young Adult