CD70 - morinlab/LLMPP GitHub Wiki
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CD70
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.[@nieDualRoleCD702022b] CD70 mutations are associated with the BN2 genetic subtype of DLBCL.[@wrightProbabilisticClassificationTool2020] 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. [@nieDualRoleCD702022b] In mouse models, CD70 loss promoted lymphomagenesis, consistent with its role as a tumor suppressor gene in B-cell lymphomas.[@mandatoAbstractA38Cd702022]
History
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2012-03-06 : Lohr : DLBCL
2013-08-15 : Morin : DLBCL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2023-07-26 : Russler-Germain : FL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011] |
 |
2 | relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b] |
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
CD70 Expression
