Myelodysplastic Syndrome

Myelodysplastic syndromes (MDS) are a group of clonal myeloid disorders characterized by peripheral blood (PB) cytopenia(s), morphological dysplasia in bone marrow, and an increased risk of progression to acute myeloid leukemia (AML). Its diagnosis is challenging, and for effective management, it is important to differentiate it from other closely related conditions which can have clinical and morphological similarity such as viral infections, autoimmune disorders, nutritional deficiencies, medication, exposures to toxins, chronic kidney and liver diseases, endocrinopathies, etc. In this chapter, a clinical case scenario is presented followed by step-by-step evidence-based approach to utilize specialized and advanced tests to unravel final diagnosis of MDS. A comprehensive description of pathophysiology of disease, differentiation of hypocellular MDS from aplastic anemia, diagnostic and prognostic chromosomal abnormalities in MDS, importance of SF3B1 mutation and other molecular abnormalities are discussed in question–answer format. Salient points are summarized for quick revision. To gain expertise in this topic and enhance your diagnostic skills for effective planning of management, read this chapter on myelodysplasia.