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Review
. 2017 Dec 20:5:111.
doi: 10.3389/fcell.2017.00111. eCollection 2017.

RUNX1 Mutations in Inherited and Sporadic Leukemia

Dana C Bellissimo  1 , Nancy A Speck  1
Affiliations
Review

RUNX1 Mutations in Inherited and Sporadic Leukemia

Dana C Bellissimo et al. Front Cell Dev Biol. .

Abstract

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.

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

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Figures

Figure 1
Figure 1
Model illustrating the mechanism by which inherited mutations in RUNX1 could elevate the risk of AML in FPD/AML individuals. Wildtype (wt), mutant (mut).
See this image and copyright information in PMC

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