myelodysplastiset

Myelodysplastiset is a Finnish term referring to myelodysplastic syndromes or to cells showing dysplasia in the bone marrow. Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis and morphologic dysplasia in one or more myeloid lineages; patients typically present with cytopenias, especially anemia, fatigue, infections, or bleeding tendencies.

The underlying biology often involves somatic mutations in genes that regulate RNA splicing, epigenetic modification, and ribosome function; common mutations include SF3B1, TET2, ASXL1, DNMT3A. Dysplastic changes lead to reduced marrow production; risk of progression to acute myeloid leukemia varies by risk category.

Diagnosis involves persistent cytopenias; examination of blood smear with dysplastic neutrophils, hypolobulated megakaryocytes; bone marrow biopsy showing dysplasia in at least 10% of cells; cytogenetic and molecular testing help classify and prognosticate. WHO and ICC classifications categorize MDS by lineage involvement and genetic features; prognostic scoring systems such as IPSS-R guide treatment decisions.

Management ranges from observation for low-risk disease to disease-modifying therapy in higher risk groups. Supportive care includes transfusions and iron chelation; growth factors (e.g., erythropoiesis-stimulating agents) for anemia. Hypomethylating agents (azacitidine, decitabine) and lenalidomide for specific cytogenetic subtypes can modify disease course. Allogeneic hematopoietic stem cell transplantation offers potential cure for selected patients. Ongoing research explores targeted therapies and novel combinations; clinical trials are important for many patients.