Τίτλος:
Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Kelaidi, C.
Makis, A.
Petrikkos, L.
Antoniadi, K.
Selenti, N.
Tzotzola, V.
Ioannidou, E.-D.
Tsitsikas, K.
Kitra, V.
Kalpini-Mavrou, A.
Fryssira, H.
Polychronopoulou, S.
Περιοδικό:
Journal of Pediatric Hematology / Oncology
Εκδότης:
Lippincott Williams and Wilkins
Λέξεις-κλειδιά:
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
DOI:
10.1097/MPH.0000000000001549
