Myelodysplastische Syndrome: Diagnostik und Therapie

Myelodysplastic syndromes (MDS) are clonal diseases of hematopoietic stem cells (HSC). They are typically associated with symptoms of dysplasia as well as chromosomal and/or molecular alterations, and characterized by hypercellular bone marrow with low peripheral blood cell counts. The recommended diagnostic workup thus includes cytomorphologic analysis of peripheral blood and bone marrow as well as cytogenetic banding techniques and, if necessary, molecular genetic analysis of bone marrow cells. The generated findings are not only important for classification of MDS according to World Health Organization (WHO) criteria, but also essential for prognostic estimation and treatment planning. Depending on the risk profile, which is classified according to the International Prognostic Scoring System—Revised Version (IPSS-R), and patient-specific factors, e.g., age and comorbidities, treatment can vary from supportive therapy such as blood transfusions and iron chelation in low-risk patients to allogeneic HSC transplantation with curative intent in high-risk patients with good general health and without comorbidities.