Myelodysplastic Syndromes

Abstract

Overview Primary, secondary, and familial myelodysplastic syndromes (MDS) became a reportable group of malignancies in 2001. Over the past 20 years, there have been tremendous strides in genetic and translational research, which has influenced the pathological diagnosis and classification, risk stratification scoring systems, and genomic characterization of MDS. In certain cases, this has led to more personalized therapy options such as Luspatercept in RARS patients with SF3B1 mutations. In this chapter, we discuss the history behind the various MDS prognostic risk stratification and classifications. We also examine our current understanding of MDS pathophysiology, the complexities with establishing an MDS diagnosis including the evolving diagnostic criteria, and the use of next‐generation sequencing analyses. Then, we outline both the standard of care therapeutic options including hypomethylating agents, and their impact over the past decade, as well as multiple clinical trials and treatment options being investigated for MDS patients. Finally, we discuss what personalized treatments and possible preventative strategies we may expect to see – in the next decade – for MDS development in high‐risk patient populations.