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Patients suspected of having myelodysplasia (MDS) might have cytopenias and cytogenetic abnormalities as a variant of normal aging, or they may develop progressive dysplasia or acute myeloid leukemia. To identify early-stage MDS patients who will develop progressive disease, investigators performed a retrospective study of 69 patients presenting with cytopenias and nondiagnostic bone-marrow examinations.
Cytogenetic examinations revealed somatic mutations and/or other structural abnormalities in 91% of samples, most often in TET2, SRSF2, and ASXL1; a median of two mutations were observed per patient. The frequency of multiple mutations was higher than in healthy people (64% vs. 8%), as was the median variant allele fraction (40% vs. 9%–10%).…