Putative RNA-splicing gene LUC7L2 on 7q34 represents a candidate gene in pathogenesis of myeloid malignancies

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 , 2 , 3 , 4 , 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.