Molecular markers
RUNX1::RUNXT1
Author: Nat Pernick, M.D.
Last author update: 1 July 2012
Last staff update: 18 December 2024
Copyright: 2003-2025, PathologyOutlines.com, Inc.
PubMed Search: runx1
Table of Contents
Definition / general | Clinical features | Uses by pathologists | Microscopic (histologic) images | Positive staining - normalCite this page: Pernick N. RUNX1::RUNXT1. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/stainsrunx1.html. Accessed January 17th, 2025.
Definition / general
- 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;97:1743)
- 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
Microscopic (histologic) images
Images hosted on other servers:
Importance of RUNX1 in
establishment of definitive
hematopoiesis during
embryonic development
Positive staining - normal
- Abundantly expressed in naive T cells but rapidly downregulated in activated T cells (J Immunol 2012;188:5408)
