RUNX1 and CBFβ mutations and activities of their wild-type alleles in AML

R. Katherine Hyde, Paul Liu, Alan D. Friedman

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer New York LLC
Number of pages18
StatePublished - 2017

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019


  • AML
  • CBFB
  • Inv(16)
  • MDS
  • MLL
  • MPD
  • RUNX1
  • t(8;21)

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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