Table of Contents

Overview

BCL10 (B-cell lymphoma/leukemia 10) is a gene involved in apoptosis signaling and immune response regulation. Mutations in BCL10 have been implicated in the pathogenesis of various lymphomas, particularly mucosa-associated lymphoid tissue (MALT) lymphomas. They have also been reproducibly observed in a smaller proportion of DLBCLs with the frequency in non-MALT lymphomas under some debate. BCL10 mutations are a feature of the BN2 genetic subgroup, mutated in nearly 40% of BN2 cases.1,2

Experimental Evidence

BCL10 missense mutations in the CARD domain and truncating mutations have distinct functions and different effects on BTK and MALT1 inhibitors.3

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
MZL 1 High-confidence MZL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 67 0.0615 [0.0473,0.0758]
DLBCL GAMBL with Reddy 2,088 98 0.0469 [0.0379,0.056]
DLBCL BC 231 12 0.0519 [0.0233,0.0806]
DLBCL Dana-Farber 303 16 0.0528 [0.0276,0.078]
DLBCL NCI 470 36 0.0766 [0.0526,0.1006]
DLBCL Reddy 999 31 0.0310 [0.0203,0.0418]
DLBCL DLBCL_ICGC 85 3 0.0353 [0,0.0745]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 11 0.0171 [0.0071,0.0272]
FL GAMBL with Crouch 1,189 19 0.0160 [0.0089,0.0231]
FL BC 379 7 0.0185 [0.0049,0.032]
FL Kalmbach 164 3 0.0183 [0,0.0388]
FL Crouch 547 8 0.0146 [0.0046,0.0247]
FL FL_ICGC 99 1 0.0101 [0,0.0298]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 0 0 [0,0]
BL GAMBL without ICGC/Zhou 320 0 0 [0,0]
BL GAMBL with Panea 410 0 0 [0,0]
BL BLGSP 219 0 0 [0,0]
BL Zhou/ICGC 90 0 0 [0,0]
BL Panea 101 0 0 [0,0]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.5029 0.0000 1
FL 5.0298 81.9189 0
DLBCL 2.2464 39.5011 0

BCL10 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 85736474 C>T R58Q
chr1 85733390 G>A Q208*
chr1 85733386 A>C L209*

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2011-07-27 : Morin : DLBCL 2013-08-15 : Morin : DLBCL 2016-09-08 : Spina : MZL 2017-10-10 : Reddy : DLBCL 2018-04-12 : Schmitz : DLBCL 2018-05-01 : Chapuy : DLBCL 2018-10-01 : Arthur : DLBCL 2023-07-26 : Russler-Germain : FL

References

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Phelan JD, Oellerich T. BCL10 Mutants: Architects of Oncogenic Signaling Provide a Blueprint for Precision Medicine. Cancer Discov. 2022 Aug 5;12(8):1844–1846.
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Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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