Role of Population Based Studies in Advancing our Knowledge of Myelodysplastic Syndromes

Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by high molecular and genomic heterogeneity. Accordingly, efforts in risk assessment and therapeutic intervention mostly target unique profiles that individualize specific MDS subtypes. In this review, we explored the contributions of population based studies accounting for MDS as a group.

Large population based studies have been critical to define important details of our current knowledge of the disease. We summarized the most important population research contributions in MDS, focusing on its epidemiology, population risk factors, and relevant clinical associations. We discuss how these population data can provide vital insights to inform prevention measures, testing strategies, and treatment decisions. Population studies play an important role in guiding clinical and research efforts in MDS. Despite its complex molecular and genomic landscape, population data is integral to define the burden of disease, identify risk factors and clinical associations, and can help elucidate pathogenic mechanisms.