Unveiling Myelodysplastic Syndromes: Exploring Pathogenic Mechanisms and Therapeutic Advances

Myelodysplastic syndromes (MDSs), either primary or secondary, are a heterogeneous group of clonal hematological neoplasms characterized by bone marrow dyshematopoiesis, peripheral blood cytopenia, and the potential risk of acute myeloid leukemia (AML) transformation. The clinical heterogeneity in MDS is a reflection of the underlying multitude of genetic defects playing a role in the pathogenesis. Recent advances in the clinicopathological, immunophenotypic, and molecular landscape in understanding the pathophysiology of MDS lead to evolving and refined classification systems with newer entities. Evolving MDS therapies will target the disease’s core mechanisms, allowing for personalized treatment based on individual patient’s genes and leading to better outcomes. This review provides an overview of MDS pathogenesis to enhance comprehension of its various subgroups. Additionally, we examine the updated classification systems of the World Health Organization (WHO) and the International Consensus Classification (ICC) pertaining to MDS, along with relevant therapeutic approaches.