CD70 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @morinFrequentMutationHistonemodifying2011, @mandatoAbstractA38Cd702022, @russler-germainMutationsAssociatedProgression2023, @wrightProbabilisticClassificationTool2020, @nieDualRoleCD702022,
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.[@nieDualRoleCD702022] 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. [@nieDualRoleCD702022] In mouse models, CD70 loss promoted lymphomagenesis, consistent with its role as a tumor suppressor gene in B-cell lymphomas.[@mandatoAbstractA38Cd702022]
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@nieDualRoleCD702022]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
Mutation pattern and selective pressure estimates
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 |
include:tables/browser_CD70.md
Expression
include:tables/mermaid_CD70.md