CD83

Overview

CD83 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.

Relevance tier by entity

Entity	Tier	Description
BL	2-a	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous
DLBCL	1-a	aSHM target and high-confidence DLBCL gene
FL	1-a	aSHM target and high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	1.15
BL	Thomas cohort	1.70
BL	Panea cohort	NA
DLBCL	GAMBL genomes	4.40
DLBCL	Schmitz cohort	5.74
DLBCL	Reddy cohort	5.81
DLBCL	Chapuy cohort	7.26
FL	GAMBL genomes	1.85

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	No	4.396	0.000
DLBCL	Yes	No	4.794	14.227
FL	Yes	No	0.000	25.732

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr6	14118026	14120025	TSS	active_promoter-strong_enhancer

[!NOTE] First described in BL in 2019 by Panea RI. First described in DLBCL in 2013.¹ First described in FL in 2023.²

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

References

1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256-65. doi: 10.1182/blood-2013-02-483727. Epub 2013 May 22. PMID: 23699601; PMCID: PMC3744992.
2. Russler-Germain DA, Krysiak K, Ramirez C, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen AF, Mehta-Shah N, Kahl BS, Bartlett NL, Alderuccio JP, Lossos IS, Ondrejka SL, Hsi ED, Martin P, Leonard JP, Griffith M, Griffith OL, Fehniger TA. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Adv. 2023 Sep 26;7(18):5524-5539. doi: 10.1182/bloodadvances.2023010779. PMID: 37493986; PMCID: PMC10514406.