Highlights & Basics
- Myelodysplastic syndrome or myelodysplastic neoplasm (MDS) is primarily a disease of older adults. It is often diagnosed incidentally in asymptomatic patients. Some patients present with symptoms of anemia, leukopenia, and thrombocytopenia.
- Diagnosis is confirmed if blood and bone marrow evaluation reveals cytopenias, morphologic dysplasia, clonal cytogenetic abnormalities or molecular mutations, and blasts (classically <20%).
- Supportive care is central to management and includes: red blood cell (RBC) transfusions with iron chelation support (for anemia); platelet transfusions (for thrombocytopenia and bleeding); and anti-infective therapy (e.g., antibiotics).
- Treatment is guided by risk assessment, disease type/characteristics, symptoms/severity of cytopenias, and erythropoietin levels. Treatment includes drug therapy (e.g., lenalidomide, erythropoiesis-stimulating agents, hypomethylating agents, luspatercept, imetelstat, immunosuppressive therapy [antithymocyte globulin], ivosidenib) and allogeneic stem cell transplantation (for select patients e.g., those with high-risk disease).
- Patients may have a prolonged disease course (i.e., with anemia, thrombocytopenia, neutropenia), or may progress rapidly to acute myeloid leukemia (AML). Most deaths occur due to complications from MDS (e.g., infection) before progression to AML.
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National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myelodysplastic syndromes [internet publication].[Full Text]
Fenaux P, Haase D, Santini V, et al; ESMO Guidelines Committee. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021 Feb;32(2):142-56.[Abstract][Full Text]
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