Myelodysplastic neoplasms: An overview on diagnosis, risk-stratification, molecular pathogenesis, and treatment

Abstract

Myelodysplastic neoplasms are clonal hematological malignancies arising from hematopoietic stem cells that accumulate various mutations. MDS is heterogeneous in nature but uniformly characterized by ineffective hematopoiesis, dysplasia of one or more cell lineages, and an increased risk of transformation to acute myeloid leukemia. Disease-related risk is commonly assessed using the Revised International Prognostic Scoring System based on five cytogenetic risk groups, together with refined categories for bone marrow blast percentage and number of cytopenias. Therapeutic options for patients with MDS vary from supportive care to allogeneic stem cell transplantation depending on the disease and patient-related risk factors. Despite great progress in understanding the molecular mechanisms underlying MDS, this knowledge has not yet been translated into the approval of a curative treatment.

Keywords: Cytogenetic; Diagnosis; Genomic; Myelodysplastic neoplasms; Risk stratification; Treatment.