Abstract:  Myelodysplastic syndrome (MDS), a clonal disease that arises from the expansion of mutated hematopoietic stem cells or hematopoietic progenitor cells, is usually characterized by a clinically and biologically heterogeneous group of disorders associated with cytopenias, ineffective hematopoiesis, and a tendency to evolve into acute myeloid leukemia. Currently, the diagnosis of MDS relies mainly on the morphologic and cytogenetic abnormalities. With the advance of the next generation sequencing, genetic mutations have been identified in majority of MDS patients. Here we briefly review the clinical significance of genetic mutations in the diagnosis, classification, risk stratification and treatment of MDS.

Key words: myelodysplastic syndrome, next generation sequencing (NGS), clonal hematopoiesis, mutation