2a0f9a1ef0fc6294d4dab52c91a7e6d1454db881
CD58.md
| ... | ... | @@ -7,7 +7,12 @@ link-citations: true |
| 7 | 7 | |
| 8 | 8 | ## Overview |
| 9 | 9 | |
| 10 | -CD58, also known as lymphocyte function-associated antigen 3 (LFA-3), is crucial for immune recognition, facilitating interactions between tumor cells and cytotoxic T cells and natural killer (NK) cells. In DLBCL, mutations prevent the expression of CD58 on the cell surface, impairing the ability of T and NK cells to recognize and attack the tumor cells. This is often accompanied by mutations in the β2-Microglobulin gene, which further aids in immune evasion.<sup>1</sup> |
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| 10 | +CD58, also known as lymphocyte function-associated antigen 3 (LFA-3), is crucial for immune recognition, facilitating interactions between tumor cells and cytotoxic T cells and natural killer (NK) cells. |
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| 11 | + |
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| 12 | +## Experimental Evidence |
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| 13 | + |
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| 14 | +In DLBCL, mutations prevent the expression of CD58 on the cell surface, impairing the ability of T and NK cells to recognize and attack the tumor cells. |
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| 15 | +This is often accompanied by mutations in the β2-Microglobulin gene, which further aids in immune evasion.[@challa-malladiCombinedGeneticInactivationa] |
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| 11 | 16 | |
| 12 | 17 | ## History |
| 13 | 18 | ```mermaid |
| ... | ... | @@ -23,7 +28,7 @@ timeline |
| 23 | 28 | |Entity|Tier|Description | |
| 24 | 29 | |:------:|:----:|--------------------------------------| |
| 25 | 30 | ||1|high-confidence PMBL/cHL/GZL gene[@schneiderAlterationsCD58Gene2015a]| |
| 26 | -| |1 |high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011]| |
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| 31 | +| |1-EE |high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011]| |
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| 27 | 32 | |
| 28 | 33 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 29 | 34 |
DLBCL_genes.md
| ... | ... | @@ -31,9 +31,9 @@ link-citations: true |
| 31 | 31 | |[BTK](BTK)|1|[Albuquerque et al](papers/albuquerqueEnhancingKnowledgeDiscovery2017a)[@albuquerqueEnhancingKnowledgeDiscovery2017a]|[@krysiakRecurrentSomaticMutations2017b]| |
| 32 | 32 | |[CARD11](CARD11)|1|[Lenz et al](papers/lenzOncogenicCARD11Mutations2008)[@lenzOncogenicCARD11Mutations2008]|[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019; @yanBCRTLRSignaling2012a; @wuGeneticHeterogeneityPrimary2016]| |
| 33 | 33 | |[CCND3](CCND3)|1|[Morin et al](papers/morinFrequentMutationHistonemodifying2011)[@morinFrequentMutationHistonemodifying2011]|[@jalladesExomeSequencingIdentifies2017; @deschGenotypingCirculatingTumor2020; @richterRecurrentMutationID32012a]| |
| 34 | -|[CD58](CD58)|1|[Morin et al](papers/morinFrequentMutationHistonemodifying2011)[@morinFrequentMutationHistonemodifying2011]|[@schneiderAlterationsCD58Gene2015a]| |
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| 34 | +|[CD58](CD58)|1-EE|[Morin et al](papers/morinFrequentMutationHistonemodifying2011)[@morinFrequentMutationHistonemodifying2011]|[@schneiderAlterationsCD58Gene2015a]| |
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| 35 | 35 | |[CD70](CD70)|1|[Morin et al](papers/morinFrequentMutationHistonemodifying2011)[@morinFrequentMutationHistonemodifying2011]|[@russler-germainMutationsAssociatedProgression2023b]| |
| 36 | -|[CD79B](CD79B)|1|[Morin et al](papers/morinFrequentMutationHistonemodifying2011)[@morinFrequentMutationHistonemodifying2011]|[@paneaWholeGenomeLandscape2019]| |
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| 36 | +|[CD79B](CD79B)|1-EE|[Morin et al](papers/morinFrequentMutationHistonemodifying2011)[@morinFrequentMutationHistonemodifying2011]|[@paneaWholeGenomeLandscape2019]| |
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| 37 | 37 | |[CD83](CD83)|1|[Morin et al](papers/morinMutationalStructuralAnalysis2013)[@morinMutationalStructuralAnalysis2013]|[@paneaWholeGenomeLandscape2019; @dunsCharacterizationDLBCLPMBL2021b; @russler-germainMutationsAssociatedProgression2023b]| |
| 38 | 38 | |[CDKN2A](CDKN2A)|1|[Morin et al](papers/morinMutationalStructuralAnalysis2013)[@morinMutationalStructuralAnalysis2013]|[@spinaGeneticsNodalMarginal2016b; @grandeGenomewideDiscoverySomatic2019]| |
| 39 | 39 | |[CREBBP](CREBBP)|1-EE|[Pasqualucci et al](papers/pasqualucciInactivatingMutationsAcetyltransferase2011a)[@pasqualucciInactivatingMutationsAcetyltransferase2011a]|[@parryWholeExomeSequencing2013; @dunsCharacterizationDLBCLPMBL2021b; @loveGeneticLandscapeMutations2012]| |
MEF2B.md
| ... | ... | @@ -25,8 +25,8 @@ timeline |
| 25 | 25 | |Entity|Tier|Description | |
| 26 | 26 | |:------:|:----:|--------------------------------------| |
| 27 | 27 | ||2|relevance in MCL not firmly established[@beaLandscapeSomaticMutations2013]| |
| 28 | -| |1-a | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011]| |
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| 29 | -| |1-a | aSHM target and high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]| |
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| 28 | +| |1-EE | high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011]| |
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| 29 | +| |1-EE | high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]| |
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| 30 | 30 | |
| 31 | 31 | |
| 32 | 32 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |