OPEN LETTER TO THE EDITOR

Acute myeloid leukemia (AML) is a myeloid malignancy that arises spontaneously or that may evolve from myelodysplastic syndrome (MDS). AML is characterized by somatic cytogenetic and molecular mutations associated with distinct clinical outcomes. In patients with normal cytogenetics, genetic techniques have been used to discover novel mutations.1–5 In order to identify new candidate mutations involved in AML disease progression and pathogenesis, we conducted whole exome sequencing (WES) on DNA from a patient with cytogenetically normal-acute myeloid leukemia (CN-AML) evolving from MDS. A patient in the seventh decade of life with CN-AML evolving from MDS was identified for exome sequencing. The patient initially presented with anemia and thrombocytopenia, and a bone marrow biopsy (BMBx) showed refractory anemia with excess blasts-1 (RAEB-1). Cytopenias worsened and a second BMB