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Myelodysplasia is characterized by aberrant marrow production of red cells, white cells, and platelets. The outcome in a given patient depends on the number of cytopenias, the percentage of bone marrow blast cells, and the karyotype. These features are included in the International Prognostic Scoring System (IPSS). However, the relationship of specific gene mutations to morbidity and mortality has not been clarified.
To distinguish the contributions of mutations to the clinical phenotype and overall survival, university investigators examined 953 mutations in 111 cancer-associated genes derived from the DNA of 439 patients with myelodysplastic syndromes. Most patients were in the IPSS low-risk or intermediate-1–risk groups, 58% had normal cy…