An Old Dog Has a New Trick: Somatic Exonic Deletions inRUNX1Are Frequent in AML

Abstract

SummarySomatic loss-of-function RUNX1 mutations in acute myeloid leukemia (AML) include missense, nonsense, and frameshift mutations, whereas germline RUNX1 variants in RUNX1-FPDMM also include large exonic deletions. Alternative variant detection approaches revealed that large exonic deletions in RUNX1 are also common in sporadic AML, which has implications for patient stratification and therapeutic decision-making.See related article by Eriksson et al., p. 2826