@article{3121857,
    title = "Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients",
    author = "Kelaidi, C. and Makis, A. and Petrikkos, L. and Antoniadi, K. and Selenti, N. and Tzotzola, V. and Ioannidou, E.-D. and Tsitsikas, K. and Kitra, V. and Kalpini-Mavrou, A. and Fryssira, H. and Polychronopoulou, S.",
    journal = "Journal of Pediatric Hematology / Oncology",
    year = "2019",
    volume = "41",
    number = "8",
    pages = "612-617",
    publisher = "Lippincott Williams and Wilkins",
    issn = "1077-4114, 1536-3678",
    doi = "10.1097/MPH.0000000000001549",
    keywords = "busulfan;  cyclophosphamide;  cyclosporine;  fludarabine;  methotrexate;  oxymetholone;  prednisolone;  thymocyte antibody;  androgen, acute myeloid leukemia;  adolescent;  Article;  bone marrow depression;  child;  chromosome aberration;  clinical article;  cohort analysis;  cytopenia;  disease classification;  dysplasia;  event free survival;  Fanconi anemia;  female;  graft rejection;  graft versus host reaction;  hematopoietic stem cell transplantation;  human;  incidence;  infant;  low drug dose;  male;  medical decision making;  mortality;  myelodysplastic syndrome;  overall survival;  preschool child;  priority journal;  prognosis;  risk assessment;  school child;  survival rate;  treatment outcome;  treatment response;  whole body radiation;  acute myeloid leukemia;  disease free survival;  Fanconi anemia;  genetics;  myelodysplastic syndrome;  retrospective study, Adolescent;  Androgens;  Child;  Child, Preschool;  Disease-Free Survival;  Fanconi Anemia;  Female;  Humans;  Infant;  Leukemia, Myeloid, Acute;  Male;  Myelodysplastic Syndromes;  Retrospective Studies;  Risk Assessment;  Survival Rate",
    abstract = "Prognostic refinement in Fanconi anemia (FA) is needed, especially when considering allogeneic hematopoietic stem cell transplantation (HCT). We studied 20 children with FA and bone marrow failure from a single center. According to Hôpital Saint-Louis risk classification for FA, patients were classified in stage A (no or mild cytopenia/dysplasia), B (single non-high-risk cytogenetic abnormality), C (severe cytopenia and/or significant dysplasia and/or high-risk cytogenetic abnormality), and D (myelodysplastic syndrome with excess of blasts/acute myeloid leukemia) in 4, 2, 13, and 0 cases, respectively. Nine patients received androgens +/- steroids, with a response rate of 30%, and 11 patients underwent HCT. Ten-year cumulative incidence (CI) of myelodysplastic syndrome/acute myeloid leukemia and overall survival (OS) were 21.9% and 45.3%, respectively, in the entire cohort, whereas cumulative incidence of transplantation-related mortality and OS were 27% and 63%, respectively, in patients who underwent HCT. Patients with significant dysplasia at diagnosis (stages C and D) had significantly shorter OS post-HCT as compared with patients without dysplasia. All patients in stages C and D at diagnosis or during evolution died from their disease. HCT in recent years was associated with more favorable outcomes. Larger cohorts could validate homogenous reporting of risk and help decision-making, particularly for HCT. © 2019 Wolters Kluwer Health, Inc. All rights reserved."
}