Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients. Issue 8 (November 2019)

• Record Type: Journal Article
• Authors: Kelaidi, Charikleia; Makis, Alexandros; Petrikkos, Loizos; Antoniadi, Kondilia; Selenti, Nikoletta; Tzotzola, Vasiliki; Ioannidou, Eleni-Dikaia; Tsitsikas, Konstantinos; Kitra, Vassiliki; Kalpini-Mavrou, Ariadni; Fryssira, Helen; Polychronopoulou, Sophia
• Is Part Of: Journal of pediatric hematology/oncology. Volume 41:Issue 8(2019)
• Publication Date: 2019-11
• Subjects: Fanconi anemia -- bone marrow failure -- myelodysplastic syndromes -- acute myeloid leukemia -- hematopoietic stem cell transplantation; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001549
• Languages: English
• ISSNs: 1077-4114

Abstract

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.