Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
21q22.12
Synonyms [1]
AMLCR1, AML1-EVI-1, PEBP2alpha, CBFA2, PEBP2aB, CBF2alpha, 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).

Significance of RUNX1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Multiple Myeloma +

Chronic Lymphocytic Leukemia +

Secondary Acute Myeloid Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

Therapy-Related Acute Myeloid Leukemia +

Double-Hit Lymphoma +

Acute Leukemia +

Acute Promyelocytic Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Small Lymphocytic Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

Acute Bilineal Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoma +

Mantle Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelofibrosis +

Myeloid Neoplasm +

Refractory Anemia +

Secondary Myelodysplastic Syndrome +

Therapy-Related Myelodysplastic Syndrome +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

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 Astrocytoma +

Anaplastic Large Cell Lymphoma +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

Bladder Carcinoma +

Breast Carcinoma +

Burkitt Lymphoma +

Chronic Myelomonocytic Leukemia-0 +

Chronic Myelomonocytic Leukemia-1 +

Chronic Myelomonocytic Leukemia-2 +

Colorectal Carcinoma +

Core Binding Factor Acute Myeloid Leukemia +

Follicular Lymphoma +

Glioblastoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Leukemia +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Malignant Solid Tumor +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

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

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Melanoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Peripheral T-Cell Lymphoma +

Polycythemia Vera +

Primary Myelofibrosis +

Prolymphocytic Leukemia +

Sarcoma +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

Therapy-Related Chronic Myelomonocytic Leukemia +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 8. 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.