Journal of Pediatric Hematology/Oncology
Original Articles
Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients
Kelaidi, Charikleia MD*; Makis, Alexandros MD, PhD†; Petrikkos, Loizos MD, PhD*; Antoniadi, Kondilia MD*; Selenti, Nikoletta PhD‡; Tzotzola, Vasiliki MD*; Ioannidou, Eleni-Dikaia MD, PhD§; Tsitsikas, Konstantinos PhD*; Kitra, Vassiliki MD, PhD§; Kalpini-Mavrou, Ariadni MD, PhD‡; Fryssira, Helen MD, PhD‡; Polychronopoulou, Sophia MD, PhD*
*Department of Pediatric Hematology-Oncology
§Bone Marrow Transplantation Unit, Aghia Sophia Children’s Hospital
‡Department of Medical Genetics, Aghia Sophia Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens
†Department of Pediatrics, University Hospital of Ioannina, Ioannina, Greece
The authors declare no conflict of interest.
Reprints: Charikleia Kelaidi, MD, Department of Pediatric Hematology & Oncology, Aghia Sophia Children’s Hospital, Thivon & Papadiamantopoulou Street, 11527 Athens, Greece (e-mail: [email protected]).
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.