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Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 2 July 2012, last major update June 2012
Copyright: (c) 2002-2012, PathologyOutlines.com, Inc.


● Transcription factor RUNt-related transcription factor ("X") 1
● Also called core-binding factor subunit alpha-2 (CBFA2); previously called AML1
● Heterodimeric transcription factor that binds to core element of many enhancers and promoters; protein encoded by this gene represents the alpha subunit of CBF (NCBI-Gene)
● Essential for establishment of definitive hematopoiesis during embryonic development
● Obligate non-DNA binding partner is core binding factor β (CBFβ)
● In adult blood homeostasis, plays pivotal role in maturation of lymphocytes and megakaryocytes (Nat Commun 2012;3:717); also required for regulation of hematopoietic stem and progenitor cells (Blood 2012;119:4152)
● Also important in neuronal differentiation (PLoS One 2012;7:e29852)
● Disruption of RUNX1 function is major cause of hematopoietic malignancy, including myelodysplastic syndromes and AML (Haematologica 2012;97:534)
● Genes for RUNX1 and CBFβ are targeted by translocations important in AML (Crit Rev Oncog 2011;16:77)

Clinical features

● ETV6 / RUNX1 fusion gene is due to t(12;21); the most frequent structural cytogenetic abnormality in childhood acute lymphoblastic leukaemia (ALL), see PreB ALL with t(12;21)(p13;q22)
● ETV6/RUNX1+ B-ALL has better prognosis than ETV6/RUNX1- B-ALL, but 20% relapse (Haematologica 2012 May 11 [Epub ahead of print])
● Also translocated in AML with t(8;21)(q22;q22)
● RUNX1 is also tumor suppressor gene in T-ALL (Nat Med 2012;18:436)
● RUNX1 abnormalities may promote AML transformation in a subset of CML patients (Blood 2012;119:2873)

Uses by pathologists

● Important in classifying hematopoietic malignancies

Micro images

Importance of RUNX1 in establishment of definitive hematopoiesis during embryonic development; Early ontogenic origin;

Positive staining - normal

● Abundantly expressed in naive T cells but rapidly downregulated in activated T cells (J Immunol 2012;188:5408)

End of Stains > RUNX1

Ref Updated: 5/31/12

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