Inherited bone marrow failure syndromes are now being recognized within groups of patients who present with apparently acquired aplastic anemia, myelodysplastic syndrome, and some solid tumors. This session will discuss recent approaches to the diagnosis and management of the inherited disorders, including genomics, transplant considerations, and new modalities of non-transplant treatment.
Dr. Jane Churpek will present a modern, practical approach for knowing when and how to utilize both old and new tools in the clinical diagnosis of the inherited bone marrow failure syndromes. She will review how the increasing use of genomics is extending our understanding of the phenotypic spectra and prevalence of the inherited bone marrow failure syndromes in both children and adults.
Dr. Blanche Alter will describe characteristics of patients with inherited bone marrow syndromes which are present from birth or develop with age, and which may be affected by hematopoietic stem cell transplantation, both improved as well as made worse. These include non-hematologic/oncologic aspects as well as hematologic/oncologic features.
Dr. Rodrigo Calado will discuss the use of growth factors, growth factor agonists, and sex hormones for the treatment of inherited bone marrow failure syndromes. He will also talk about how the understanding of the molecular basis of marrow failure along with the derivation of patient-specific pluripotent stem cells may help identify target pathways and novel drugs.