It has been known that the germline mutations leading to the inherited bone marrow failure syndromes (IBMFS) are associated with cancer predisposition in those patients. The discovery of somatic mutations in acquired bone marrow failure conditions, such as aplastic anemia, myelodysplastic syndrome (MDS), leukemia, and even solid tumors, and in the IBMFS, has added further clinical significance to these genes.
Dr. Jaroslaw P. Maciejewski will define somatic mutations in aplastic anemia and MDS and their clinical implications in the management of these patients. His presentation will focus on biological aspects of clonal architecture, its dynamics in individual disease, and the impact on clinical features. He will provide a practical guide as to how to evaluate the results of mutational testing as well as the caveats and shortcomings of the currently applied analytic tools.
Dr. Adrianna Vlachos will discuss the discovery of ribosomal protein (RP) mutations and deletions in the pathogenesis of MDS, leukemia, and solid tumors. Aberrations in RP expression acting by overexpression as oncogenes or by haploinsufficiency as possible tumor suppressors may serve as heretofore underappreciated drivers of malignancy. Both over- and underexpression of RPs suggest these as potential therapeutic targets.
Dr. Christopher Park will discuss the changes that occur in hematopoietic stem and progenitor cells as well as the bone microenvironment with age and the contribution of these changes to the development of bone marrow failure, especially MDS. Given the increasing frequency of clonal hematopoiesis with age, the potential role of somatic mutations in hematopoietic aging is also being investigated.
Jaroslaw P. Maciejewski
Christopher Y. Park
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