Overview

Location [1]
6p25.3
Pathway
Immune checkpoints
Protein [2]
Interferon regulatory factor 4
Synonyms [1]
NF-EM5, MUM1, SHEP8, LSIRF

Interferon regulatory factor 4 (IRF4) is a gene that encodes a transcription factor protein that functions as a regulator of interferons and interferon-inducible genes. The protein is also a negative regulator of Toll-like-receptor (TLR) signaling. Fusions, missense mutations, nonsense mutations, and silent mutations are observed in cancers such as hematopoietic and lymphoid cancers, intestinal cancer, and ovarian cancer.

IRF4 is altered in 1.34% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, diffuse large B-cell lymphoma, not otherwise specified, and cutaneous melanoma having the greatest prevalence of alterations [3].

IRF4 GENIE Cases - Top Diseases

The most common alterations in IRF4 are IRF4 Loss (0.28%), IRF4 Amplification (0.25%), IRF4 C99R (0.02%), IRF4 D429N (0.01%), and IRF4 R8Q (0.02%) [3].

IRF4 GENIE Cases - Top Alterations

Significance of IRF4 in Diseases

Diffuse Large B-Cell Lymphoma +

Transformed Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma Activated B-Cell Type +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Double-Hit Lymphoma +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

Intravascular Large B-Cell Lymphoma +

Triple-Hit Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Primary Mediastinal B-Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Follicular Lymphoma +

High Grade B-Cell Lymphoma With MYC And BCL2 And/Or BCL6 Rearrangements +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

Large B-Cell Lymphoma With IRF4 Rearrangement +

Lymphomatoid Granulomatosis +

Primary Central Nervous System Lymphoma +

Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

Extranodal Marginal Zone Lymphoma Of Mucosa-Associated Lymphoid Tissue +

Marginal Zone Lymphoma +

ALK-Positive Large B-Cell Lymphoma +

Breast Lymphoma +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia +

Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation +

EBV-Positive Mucocutaneous Ulcer +

Grade 3b Follicular Lymphoma +

Lymphoplasmacytic Lymphoma +

Nodal Marginal Zone Lymphoma +

Plasmablastic Lymphoma +

Primary Effusion Lymphoma +

Richter Syndrome +

Splenic Marginal Zone Lymphoma +

Testicular Lymphoma +

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.