CD70

Table of Contents

Overview
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Mutation pattern and selective pressure estimates
CD70 Hotspots
CD70 Expression
References

Overview

CD70 is a costimulatory molecule expressed on some activated lymphocytes and has a role in T-cell-mediated immune responses. CD70 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.² The mutation pattern in CD70 is consistent with the preferential accumulation of inactivating mutations. Genetic perturbation limits the development of an effective CD8+ T-cell immune response in Bcl6-driven DLBCL.¹ In mouse models, CD70 loss promoted lymphomagenesis, consistent with its role as a tumor suppressor gene in B-cell lymphomas.³

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence DLBCL gene⁴
	2	relevance in FL not firmly established⁵

Mutation incidence in large patient cohorts (GAMBL reanalysis)

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Cannot include /FL_CD70.md - does not exist yet

Mutation pattern and selective pressure estimates

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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

CD70 Expression

Cannot include /mermaid_CD70.md - does not exist yet

References

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. PMCID: PMC9722974

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.

Mandato E, Calabretta E, Bai G, Song L, Sun Y, Shanmugam V, Paczkowska J, Choi IK, Redd R, Tang M, Lawton LN, Neuberg D, Rodig S, Michor F, Zhang B, Shipp MA. Abstract A38: Cd70 genetic perturbation limits the development of an effective CD8+ T-cell immune response to Bcl6-driven diffuse large B-cell lymphoma. Blood Cancer Discovery. 2022 Sep 6;3:A38.

Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298–303. PMCID: PMC3210554

Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.