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Given that patients with acute myeloid leukemia (AML) have highly variable outcomes, the need for useful prognostic markers is clear. To identify loss-of-function mutations in the DNA methyltransferase gene DNMT3A, investigators performed DNA sequencing for skin-biopsy samples from 282 patients with de novo AML and for 188 samples from matched controls. The findings were correlated with cytogenetic risk group, mutations in other prognostically relevant genes, and clinical outcome.
Of 281 patients whose samples underwent complete DNMT3A sequence analysis, 62 (22%) had identifiable mutations with translational consequences. Virtually all of the mutations (93%) were in patients with intermediate-risk cytogenetic profiles; the rest were in patie…