JUNB

Overview

JUNB has been reported to be frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL).¹ Mutations have also been reported in DLBCL but the mutation rate in the earliest study² was likely an over-estimate.³ According to one study, mutations are often enriched at somatic hypermutation hotspot sites, indicating the involvement of aberrant somatic hypermutation in the pathogenesis of these lymphomas.¹ ## History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-10-10 : Reddy : DLBCL 2019-09-05 : Mottok : PMBL

## Relevance tier by entity

Entity	Tier	Description
	2	relevance in PMBL/cHL/GZL not firmly established
	1	high-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	3.25
DLBCL	Schmitz cohort	3.19
DLBCL	Reddy cohort	3.50
DLBCL	Chapuy cohort	2.14

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	1.009	0.00
DLBCL	No	No	1.285	8.88
FL	No	No	0.000	0.00

[!NOTE] First described in DLBCL in 2017 by Reddy A

[!WARNING] Mutations in this gene were reported to be inflated in the original results according to Dreval K

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

References

Schuhmacher, B., Bein, J., Rausch, T., Beneš, V., Tousseyn, T., Vornanen, M., Ponzoni, M., Thurner, L., Gascoyne, R., Steidl, C., Küppers, R., Hansmann, M., & Hartmann, S. (2018). JUNB, DUSP2, SGK1, SOCS1 and CREBBP are frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma. Haematologica, 104, 330 - 337. https://doi.org/10.3324/haematol.2018.203224.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct 5;171(2):481-494.e15. doi: 10.1016/j.cell.2017.09.027. PMID: 28985567; PMCID: PMC5659841.
Revisiting Reddy: A DLBCL Do-over Kostiantyn Dreval, Manuela Cruz, Christopher Rushton, Nina Liuta, Houman Layegh Mirhosseini, Callum Brown, Ryan D. Morin, the GAMBL consortium bioRxiv 2023.11.21.567983; doi: https://doi.org/10.1101/2023.11.21.567983 ## JUNB Expression