Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Gene Location [1]
6p25.3
Pathway
Immune checkpoints
Variant Type
Fusion
Gene
IRF4

IRF4 Fusion is present in 0.01% of AACR GENIE cases, with cancer of unknown primary, dedifferentiated liposarcoma, and pancreatic adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with IRF4 Fusion

Significance of IRF4 Fusion in Diseases

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

Diffuse Large B-Cell Lymphoma +

Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

Intravascular Large B-Cell Lymphoma +

Lymphomatoid Granulomatosis +

Mediastinal Large B-Cell Lymphoma +

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

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

ALK-Positive Large B-Cell Lymphoma +

Atypical Burkitt/Burkitt-Like Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Burkitt Lymphoma +

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

Double-Hit Lymphoma +

EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

EBV-Positive Mucocutaneous Ulcer +

Extranodal Marginal Zone Lymphoma Of Mucosa-Associated Lymphoid Tissue +

Follicular Lymphoma +

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

HHV8-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

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

Large B-Cell Lymphoma With IRF4 Rearrangement +

Mantle Cell Lymphoma +

Nodal Marginal Zone Lymphoma +

Plasmablastic Lymphoma +

Primary Central Nervous System Lymphoma +

Primary Effusion Lymphoma +

Primary Mediastinal B-Cell Lymphoma +

Richter Syndrome +

Splenic Marginal Zone Lymphoma +

Transformed Non-Hodgkin Lymphoma +

Triple-Hit Lymphoma +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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