IL4R

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @viganoSomaticIL4RMutations2018, @dunsCharacterizationDLBCLPMBL2021,

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Overview

Mutations in IL4R have been identified in various types of B-cell lymphomas, particularly primary mediastinal large B-cell lymphoma (PMBCL) and DLBCL. IL4R is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. IL4R mutations are found in approximately 24.2% of primary PMBCL cases. These mutations are commonly single nucleotide variants in exon 8, resulting in the I242N amino acid change. This leads to constitutive activation of the JAK-STAT signaling pathway and upregulation of downstream cytokine expression profiles and B cell-specific antigens.[@viganoSomaticIL4RMutations2018; @dunsCharacterizationDLBCLPMBL2021] In DLBCL, IL4R mutations are more rare and tend to occur within the GCB subgroup.[@dunsCharacterizationDLBCLPMBL2021]

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@viganoSomaticIL4RMutations2018]

Relevance tier by entity

include:tables/table1_IL4R.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_IL4R.md

Mutation pattern and selective pressure estimates

include:tables/dnds_IL4R.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr16	27322895	27329423	TSS	active_promoter

IL4R Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr16	27367183	T>A	I242N

include:tables/browser_IL4R.md

Expression

include:tables/mermaid_IL4R.md

References