CD70

Overview

CD70 genetic aberrations are relatively common in DLBCL and appear more frequent in certain DLBCL patient populations. For instance, in a Chinese DLBCL cohort, 24% of cases exhibited CD70 genetic changes, compared to 10.8% in a Swedish cohort.¹ CD70 mutations are associated with the BN2 genetic subtype of DLBCL.

Relevance tier by entity

Entity	Tier	Description
DLBCL	1	high-confidence DLBCL gene
FL	2	relevance in FL not firmly established
BL	2	relevance in BL not firmly established

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	5.54
DLBCL	Schmitz cohort	9.36
DLBCL	Reddy cohort	6.91
DLBCL	Chapuy cohort	7.69
FL	GAMBL genomes	1.15
BL	GAMBL genomes+capture	0.92
BL	Thomas cohort	0.40
BL	Panea cohort	3.00

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	2.199	0.000
DLBCL	No	Yes	28.493	249.836
FL	No	No	0.000	106.251

## CD70 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr19	6590145	C>T	W55*
chr19	6590138	C>T	A58T
chr19	6590138	C>G	A58P
chr19	6590137	G>A	A58V
chr19	6590116	G>A	T65I

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

References

1. Nie M, Ren W, Ye X, Berglund M, Wang X, Fjordén K, Du L, Giannoula Y, Lei D, Su W, Li W, Liu D, Linderoth J, Jiang C, Bao H, Jiang W, Huang H, Hou Y, Zhu S, Enblad G, Jerkeman M, Wu K, Zhang H, Amini RM, Li ZM, Pan-Hammarström Q. The dual role of CD70 in B-cell lymphomagenesis. Clin Transl Med. 2022 Dec;12(12):e1118. doi: 10.1002/ctm2.1118. PMID: 36471481; PMCID: PMC9722974.
2. Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709.