Myelodysplastic syndromes (MDS) are comprised of a heterogenous group of disorders characterized by clonal hematopoiesis with a propensity to evolve into acute myeloid leukemia. MDS presenting in children and young adults is associated with clinically and biologically distinct features from MDS arising in older adults. MDS presenting in children and young adults is associated with a higher likelihood of an underlying genetic predisposition; however genetic predisposition is increasingly recognized in a subset of older adults. In this session, we will discuss genetic syndromes that increase susceptibility to MDS.
Dr. Akiko Shimamura will discuss when genetic susceptibility should be considered in children and in adults presenting for the first time with MDS, considering diagnostic strategies and implications of specific diagnoses.
Dr. Stella Davies will then discuss strategies for screening and treatment of MDS in the setting of a known susceptibility. Different genetic syndromes provide specific challenges for screening, from those with high risk in which the need for annual screening is pressing, to disorders in which risk is moderate and may occur later in life, making the value of screening unclear.
Dr. Maciejewski will lastly discuss the clinical challenge of differentiating between aplastic anemia and hypocellular MDS. Dr Maciejewski will discuss mechanisms of initiation and evolution of hypocellular MDS and the similarities and differences in genetic and immune changes in the two conditions, and the importance of this knowledge in diagnostic and treatment decisions.