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Front Cell Dev Biol. 2017 Dec 20;5:111. doi: 10.3389/fcell.2017.00111. eCollection 2017.

RUNX1 Mutations in Inherited and Sporadic Leukemia.

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Department of Cell and Developmental Biology, Perelman School of Medicine, Abramson Family Cancer Research Institute, Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA, United States.


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


RUNX1; familial platelet disorder with predisposition for acute myeloid leukemia; leukemia; leukemia predisposition; myeloid neoplasms; pre-leukemia

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