Genetics of Myelodysplastic Syndromes

SIMPLE SUMMARY: Myelodysplastic syndrome (MDS) is a disease of the bone marrow, characterized by an inability of the bone marrow to produce normal numbers of peripheral blood cells. There are several different types of MDS, and these are driven by distinct biological pathways. The past several years have seen great advances in developing new treatment strategies based on this molecular understanding of the disease drivers. Thus, accurate diagnosis and effective treatment now rely on an accurate assessment of each patient’s particular disease. Most exciting now is the recognition of precursor conditions that may allow strategies to delay or even prevent MDS development altogether. ABSTRACT: Myelodysplastic syndrome (MDS) describes a heterogeneous group of bone marrow diseases, now understood to reflect numerous germline and somatic drivers, characterized by recurrent cytogenetic abnormalities and gene mutations. Precursor conditions including clonal hematopoiesis of indeterminate potential and clonal cytopenia of undetermined significance confer risk for MDS as well as other hematopoietic malignancies and cardiovascular complications. The future is likely to bring an understanding of those individuals who are at the highest risk of progression to MDS and preventive strategies to prevent malignant transformation.