Overview

Location [1]
8q21.3
Protein [2]
Protein CBFA2T1
Synonyms [1]
AML1-MTG8, CDR, CBFA2T1, ETO, MTG8, ZMYND2, AML1T1

RUNX1T1 (Runt-related transcription factor 1; translocated to, 1 (cyclin D-related)), also known as AML1T1, ETO, and MTG8, is a gene that codes for a transcription-regulating protein.  The RUNX1-RUNX1T1 fusion has been primarily observed in acute myeloid leukemia.

RUNX1T1 is altered in 2.13% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, melanoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

RUNX1T1 GENIE Cases - Top Diseases

The most common alterations in RUNX1T1 are RUNX1T1 Amplification (0.89%), RUNX1T1 Fusion (0.10%), RUNX1T1 R31C (0.08%), RUNX1T1 E238K (0.09%), and RUNX1T1 G575R (0.07%) [3].

RUNX1T1 GENIE Cases - Top Alterations

Significance of RUNX1T1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Chronic Myelomonocytic Leukemia +

Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

Acute Promyelocytic Leukemia +

Double-Hit Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Small Lymphocytic Lymphoma +

Acute Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

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

Core Binding Factor Acute Myeloid Leukemia +

Anaplastic Large Cell Lymphoma +

Marginal Zone Lymphoma +

Follicular Lymphoma +

Mantle Cell Lymphoma +

Diffuse Large B-Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

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

Adult T-Cell Leukemia/Lymphoma +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

Burkitt Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelofibrosis +

Prolymphocytic Leukemia +

Refractory Anemia +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

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.