Overview

Location [1]
21q22.12
Protein [2]
Runt-related transcription factor 1
Synonyms [1]
CBFA2, CBF2alpha, EVI-1, PEBP2alpha, AMLCR1, PEBP2aB, AML1-EVI-1, AML1

Runt-related transcription factor 1 (RUNX1; also known as AML1) is a gene that codes for runt-related transcription factor 1, the alpha subunit of the core binding factor protein. This protein is thought to take part in regulating expression of multiple genes involved in normal hematopoiesis (Gene 2013PMID: 14556655). RUNX1 is involved in translocations observed in hematologic malignancies, including AML, ALL, and myelodysplastic syndromes. Its role in cancer is also being investigated in promyelocytic leukemia, as well as in solid tumors such as endometrial, ovarian, and breast cancer. In addition, germline RUNX1 mutations, deletions, and translocations have been associated with conditions that predispose individuals to myeloid malignancies (PMID: 24136165PMID: 11830488; NCCN 2014PMID: 10508512).

RUNX1 is altered in 2.42% of all cancers with breast carcinoma, leukemia, non-small cell lung carcinoma, myelodysplastic syndromes, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

RUNX1 GENIE Cases - Top Diseases

The most common alterations in RUNX1 are RUNX1 Mutation (2.33%), RUNX1 c.170-c.1439 Missense (1.40%), RUNX1 c.298-c.629 Missense (1.40%), RUNX1 c.97-c.164 Missense (1.40%), and RUNX1 Frameshift (0.68%) [3].

RUNX1 GENIE Cases - Top Alterations

Significance of RUNX1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Multiple Myeloma +

Chronic Lymphocytic Leukemia +

Double-Hit Lymphoma +

Refractory Anemia With Excess Blasts +

Myelodysplastic/Myeloproliferative Neoplasm +

Acute Leukemia +

Myeloproliferative Neoplasm +

Lymphoma +

Acute Promyelocytic Leukemia +

Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Juvenile Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Myeloid Sarcoma +

Refractory Anemia With Excess Blasts-2 +

Myelofibrosis +

Malignant Solid Tumor +

Melanoma +

Bladder Carcinoma +

Breast Carcinoma +

Glioblastoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Head And Neck Carcinoma +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Myeloid Leukemia With Inv(16)(P13.1q22) Or t(16;16)(P13.1;Q22); CBFB-MYH11 +

Acute Myeloid Leukemia With t(8;21); (Q22; Q22.1); RUNX1-RUNX1T1 +

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Anaplastic Large Cell Lymphoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

Burkitt Lymphoma +

Core Binding Factor Acute Myeloid Leukemia +

Follicular Lymphoma +

Lymphoplasmacytic Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mediastinal Large B-Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Ovarian Carcinoma +

Peripheral T-Cell Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.