Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients.

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.

• Authors: Charikleia Kelaidi, Alexandros Makis, Loizos Petrikkos, Kondilia Antoniadi, Nikoletta Selenti, Vasiliki Tzotzola, Eleni-Dikaia Ioannidou, Konstantinos Tsitsikas, Vassiliki Kitra, Ariadni Kalpini-Mavrou, Helen Fryssira, Sophia Polychronopoulou
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 41 Issue 8 Pg. 612-617 (11 2019) ISSN: 1536-3678 [Electronic] United States
• PMID: 31259830 (Publication Type: Journal Article)

Chemical References

• Androgens

Topics

• Adolescent
• Androgens (administration & dosage)
• Child
• Child, Preschool
• Disease-Free Survival
• Fanconi Anemia (diagnosis, drug therapy, genetics, mortality)
• Female
• Humans
• Infant
• Leukemia, Myeloid, Acute (diagnosis, drug therapy, genetics, mortality)
• Male
• Myelodysplastic Syndromes (diagnosis, drug therapy, genetics, mortality)
• Retrospective Studies
• Risk Assessment
• Survival Rate