title: Follow-up by cytogenetic and fluorescence in situ hybridization analysis of allogeneic bone marrow transplantation in two children with Fanconi's anaemia in transformation.
abstract: Results of bone marrow transplantation (BMT) in patients with Fanconi's anaemia (FA) in transformation are very poor and only a few cases with favourable outcome have been reported. We present the follow-up of two FA-myelodysplastic syndrome (MDS) patients with monosomy 7 and complex karyotype implicating chromosome 1. Both relapsed with acute myeloid leukaemia (AML) following an allogeneic BMT from an HLA-identical brother. The patients showed clonal cytogenetic evolution coinciding with the leukaemic transformation. In one patient, fluorescence in situ hybridization using X and Y chromosome probes detected an increase of host cells before clinical relapse. Both patients received a successful second allogeneic BMT from the same donor using a more intensive treatment regimen and remain in clinical and cytogenetic remission more than 3 years later.
authors.affiliation: Departamento de Biología Animal, Biología Vegetal y Ecología, Facultad de Ciencias, Universidad Autónoma de Barcelona, Spain. mariarosa.caballin@uab.es
authors.forename: M
authors.initials: M
authors.lastname: Ortega
authors.forename: M R
authors.initials: MR
authors.lastname: Caballín
authors.forename: J J
authors.initials: JJ
authors.lastname: Ortega
authors.forename: T
authors.initials: T
authors.lastname: Olive
authors.forename: M D
authors.initials: MD
authors.lastname: Coll
mesh_terms: D016026:Bone Marrow Transplantation / Q000379:methods*; D002648:Child; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D005199:Fanconi Anemia / Q000235:genetics / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000601:surgery*; D012086:Reoperation; D014184:Transplantation, Homologous