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.
| Original language | English (US) |
|---|---|
| Title of host publication | Advances in Experimental Medicine and Biology |
| Publisher | Springer New York LLC |
| Pages | 265-282 |
| Number of pages | 18 |
| Volume | 962 |
| DOIs | |
| State | Published - 2017 |
Publication series
| Name | Advances in Experimental Medicine and Biology |
|---|---|
| Volume | 962 |
| ISSN (Print) | 00652598 |
| ISSN (Electronic) | 22148019 |
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Keywords
- AML
- CBFB
- Inv(16)
- MDS
- MLL
- MPD
- RUNX1
- t(8;21)
ASJC Scopus subject areas
- Medicine(all)
- Biochemistry, Genetics and Molecular Biology(all)
Cite this
RUNX1 and CBFβ mutations and activities of their wild-type alleles in AML. / Hyde, Ricia K; Liu, Paul; Friedman, Alan D.
Advances in Experimental Medicine and Biology. Vol. 962 Springer New York LLC, 2017. p. 265-282 (Advances in Experimental Medicine and Biology; Vol. 962).Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - RUNX1 and CBFβ mutations and activities of their wild-type alleles in AML
AU - Hyde, Ricia K
AU - Liu, Paul
AU - Friedman, Alan D.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - AML
KW - CBFB
KW - Inv(16)
KW - MDS
KW - MLL
KW - MPD
KW - RUNX1
KW - t(8;21)
UR - http://www.scopus.com/inward/record.url?scp=85015442498&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85015442498&partnerID=8YFLogxK
U2 - 10.1007/978-981-10-3233-2_17
DO - 10.1007/978-981-10-3233-2_17
M3 - Chapter
VL - 962
T3 - Advances in Experimental Medicine and Biology
SP - 265
EP - 282
BT - Advances in Experimental Medicine and Biology
PB - Springer New York LLC
ER -