Article
Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.
Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Aug 2023
Eriksson Anna, Engvall Marie, Mathot Lucy, Österroos Albin, Rippin Martin, Cavelier Lucia, Ladenvall Claes, Baliakas Panagiotis
Abstract excerpt
PURPOSE: In acute myeloid leukemia (AML), somatic mutations (commonly missense, nonsense, and frameshift indels) in RUNX1 are associated with a dismal clinical outcome. Inherited RUNX1 mutations cause familial platelet disorder. As approximately 5%-10% of germline RUNX1 mutations are large exonic deletions, we hypothesized that such exonic RUNX1 aberrations may also be acquired during the development of AML....
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