Myelodysplastic syndrome

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 anaemia, leukopenia, and thrombocytopenia.

Diagnosis is confirmed if blood and bone marrow evaluation reveals cytopenias, morphological 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 anaemia); 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 anaemia, thrombocytopenia, neutropenia), or may progress rapidly to acute myeloid leukaemia (AML). Most deaths occur due to complications from MDS (e.g., infection) before progression to AML.

MDS is a heterogenous group of clonal haematopoietic neoplasms characterised by cytopenias (anaemia, neutropenia, and/or thrombocytopenia); significant bone marrow dysplasia; blasts in the peripheral blood and/or bone marrow (classically <20%); cytogenetic/genetic abnormalities (e.g., 5q deletion, SF3B1 mutation, TP53 mutation); and a predilection to progress to AML.[1]Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022 Jul;36(7):1703-19. https://www.doi.org/10.1038/s41375-022-01613-1 http://www.ncbi.nlm.nih.gov/pubmed/35732831?tool=bestpractice.com [2]Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022 Sep 15;140(11):1200-28. https://www.doi.org/10.1182/blood.2022015850 http://www.ncbi.nlm.nih.gov/pubmed/35767897?tool=bestpractice.com ​ 

MDS can arise de novo or occur secondary to antecedent haematological malignancy or following exposure to chemotherapy or radiotherapy.[3]Steensma DP, Bennett JM. The myelodysplastic syndromes: diagnosis and treatment. Mayo Clin Proc. 2006 Jan;81(1):104-30. http://www.ncbi.nlm.nih.gov/pubmed/16438486?tool=bestpractice.com