RUNX1 and CBFβ Mutations and Activities of Their Wild-Type Alleles in AML

R Katherine Hyde; Paul Liu; Alan D Friedman

doi:10.1007/978-981-10-3233-2_17

RUNX1 and CBFβ Mutations and Activities of Their Wild-Type Alleles in AML

Adv Exp Med Biol. 2017:962:265-282. doi: 10.1007/978-981-10-3233-2_17.

Authors

R Katherine Hyde¹, Paul Liu², Alan D Friedman³

Affiliations

¹ Department of Biochemistry and Molecular Biology, and Fred and Pamela Buffet Cancer Center, University of Nebraska Medical Center, Omaha, NE, USA. kate.hyde@unmc.edu.
² Division of Intramural Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
³ Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

PMID: 28299663
DOI: 10.1007/978-981-10-3233-2_17

Abstract

Mutations in RUNX1 and CBFB have long been recognized as important in hematological malignancies. Point mutations and deletions of RUNX1 are frequently found in myelodysplastic syndrome, myeloproliferative disease, and acute myeloid leukemia. Germline mutations in RUNX1 are associated with familial platelet disorder with predisposition to AML. In addition, as will be discussed in other chapters, both RUNX1 and CBFB are involved in recurrent chromosomal rearrangements in leukemia. More recently, roles for the non-mutated RUNX1 and CBFB genes have been identified in multiple leukemia subtypes. This chapter will discuss the roles of RUNX1 and CBFB, both in diseases caused by their mutations or deletions, as well as in the context of chromosomal rearrangements.

Keywords: AML; CBFB; Inv(16); MDS; MLL; MPD; RUNX1; t(8;21).

Publication types

Review

MeSH terms

Alleles
Animals
Chromosome Aberrations
Core Binding Factor Alpha 2 Subunit / genetics*
Core Binding Factor beta Subunit / genetics*
Humans
Leukemia, Myeloid, Acute / genetics*
Mutation / genetics*

Substances

CBFB protein, human
Core Binding Factor Alpha 2 Subunit
Core Binding Factor beta Subunit
RUNX1 protein, human