LTB - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

LTB

Overview

LTB (Lymphotoxin Beta) is a member of the tumor necrosis factor (TNF) superfamily, which plays a role in the development and organization of secondary lymphoid tissues and in the regulation of immune responses. LTB 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. Although the mutation incidence is relatively high in DLBCL, little is known about the role of these mutations in lymphomagenesis. The mutation pattern overall implies a selective pressure to acquire loss-of-function mutations in LTB.

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2018-05-01 : Chapuy : DLBCL
      2019-08-20 : Desch : PMBL

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene[@deschGenotypingCirculatingTumor2020]
DLBCL 1-a aSHM target and high-confidence DLBCL gene [@chapuyMolecularSubtypesDiffuse2018b]
FL 1-a aSHM target and high-confidence FL gene
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 9.37
DLBCL Schmitz cohort 8.51
DLBCL Reddy cohort NA
DLBCL Chapuy cohort 9.83
FL GAMBL genomes 8.78
BL GAMBL genomes+capture 3.00
BL Thomas cohort 3.00
BL Panea cohort 5.90

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
DLBCL Yes No 2.261 10.402
FL Yes No 5.259 35.735
BL Yes No 4.330 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr6 31548325 31550717 intron-1 enhancer

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

LTB Expression

References