![]() 1 Primary MDS typically presents in older adults, with median age of disease onset of 72 to 75 years in the context of somatic mutations acquired with age. ![]() Myelodysplastic syndrome (MDS) is defined by the World Health Organization as a clonal hematopoietic disorder characterized by ineffective hematopoiesis, cytopenias, single- or multilineage dysplasia, and an increased propensity to evolve to acute myeloid leukemia (AML). Elucidation of the molecular and genetic pathways driving clonal evolution may inform surveillance and risk stratification, and may lead to the development of novel therapeutic strategies. The effects of germline genetic context on the selective pressures driving somatic clonal evolution are explored. This review provides an overview of syndromes associated with genetic predisposition to MDS, discusses implications for clinical evaluation and management, and explores scientific insights gleaned from the study of MDS predisposition syndromes. ![]() Because many patients lack overt syndromic features, genetic testing plays an important role in the diagnostic evaluation. Although each individual genetic disorder is rare, as a group, the genetic MDS disorders account for a significant subset of MDS in children and young adults. Germline predisposition is increasingly recognized in MDS presenting at older ages as well. Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of age-related somatic mutations, whereas MDS presenting in children and younger adults is more frequently associated with germline genetic predisposition.
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