AUTHOR=Bellissimo Dana C. , Speck Nancy A. 

TITLE=RUNX1 Mutations in Inherited and Sporadic Leukemia

JOURNAL=Frontiers in Cell and Developmental Biology

VOLUME=5

YEAR=2017

URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2017.00111

DOI=10.3389/fcell.2017.00111

ISSN=2296-634X

ABSTRACT=<p><italic>RUNX1</italic> is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in <italic>RUNX1</italic> cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in <italic>RUNX1</italic> are usually secondary events, whereas in FPD/AML they are initiating events. Here we will describe mutations in <italic>RUNX1</italic> in sporadic AML and in FPD/AML, discuss the mechanisms by which inherited mutations in <italic>RUNX1</italic> could elevate the risk of AML in FPD/AML individuals, and speculate on why mutations in <italic>RUNX1</italic> are rarely, if ever, the first event in sporadic AML.</p>