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BIOMARKER:

TNFAIP3 mutation

i
Other names: TNFAIP3, TNF Alpha Induced Protein 3, Tumor Necrosis Factor Alpha-Induced Protein 3, Putative DNA-Binding Protein A20, OTU Domain-Containing Protein 7C, Zinc Finger Protein A20, OTUD7C, Tumor Necrosis Factor, Alpha Induced Protein 3, Tumor Necrosis Factor, Alpha-Induced Protein 3, Tumor Necrosis Factor Inducible Protein A20, TNF Alpha-Induced Protein 3, TNFA1P2, AISBL
Entrez ID:
Related biomarkers:
1m
The immune microenvironment features and response to immunotherapy in EBV-associated lymphoepithelioma-like cholangiocarcinoma. (PubMed, Hepatol Int)
A better understanding of the composition of TIME in EBV-LELCC is critical for predicting the clinical outcomes of ICB treatment.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • PTEN (Phosphatase and tensin homolog) • CD8 (cluster of differentiation 8) • CD19 (CD19 Molecule) • CD79B (CD79b Molecule) • TNFAIP3 (TNF Alpha Induced Protein 3) • MUC16 (Mucin 16, Cell Surface Associated) • BARD1 (BRCA1 Associated RING Domain 1) • NCAM1 (Neural cell adhesion molecule 1) • EPHA5 (EPH Receptor A5) • KDM5A (Lysine Demethylase 5A) • RECQL4( RecQ Like Helicase 4) • MUC6 (Mucin 6)
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PD-L1 expression • PD-L1 overexpression • PTEN mutation • CD79B mutation • BARD1 mutation • TNFAIP3 mutation • CD79B mutation + TNFAIP3 mutation • RECQL4 mutation
3ms
MOLECULAR CLUSTERS OF IGM MONOCLONAL GAMMOPATHIES PRESENT DISTINCT BIOLOGIC, IMMUNE AND METABOLIC FEATURES (EHA 2022)
Fig1E In support of this, SPADE clustering analysis identified three clusters including T FH , T reg and T EM cells. Conclusion We have identified three molecular clusters in IgM monoclonal gammopathies with distinct clinical, proteomic, metabolomic and immune features, suggesting a potential biologic classification that may have therapeutic implications.
Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • CD19 (CD19 Molecule) • TNFAIP3 (TNF Alpha Induced Protein 3) • CD4 (CD4 Molecule) • IL10 (Interleukin 10) • SDC1 (Syndecan 1) • IL4 (Interleukin 4)
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MYD88 L265P • TNFAIP3 mutation
3ms
ALLG LABORATORY SCIENCE STUDY LS21: MOLECULAR CORRELATES OF RESPONSE IN RELAPSED/REFRACTORY MARGINAL ZONE LYMPHOMA (RRMZL) PATIENTS TREATED WITH ZANUBRUTINIB IN THE MAGNOLIA TRIAL (EHA 2022)
An exploratory analysis of the ibrutinib-treated rrMZL study showed mutations in genes regulating NF-kB signalling pathway: TNFAIP3 ( A20 ) and MYD88 predicted response, whereas KMT2D ( MLL2 ) and CARD11 were associated with primary resistance. Conclusion Mutations in genes associated with the NFkB pathway present at baseline are predictive of response to zanubrutinib in rrMZL patients. Detection of acquired BTK and PLCy2 mutations on therapy is feasible and may herald clinical disease progression.
Clinical
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NOTCH1 (Notch 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • KMT2D (Lysine Methyltransferase 2D) • NOTCH2 (Notch 2) • CARD11 (Caspase Recruitment Domain Family Member 11) • PLCG2 (Phospholipase C Gamma 2) • TNFAIP3 (TNF Alpha Induced Protein 3) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)
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KMT2D mutation • MYD88 mutation • CARD11 mutation • PLCG2 mutation • TNFAIP3 mutation • BTK R665W • NOTCH mutation
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ibrutinib • Brukinsa (zanubrutinib)
5ms
Genomic correlates of response to immune checkpoint blockade in Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma (AACR 2022)
Our study observed comprehensive CNVs in PLELC patients which is a unique molecular feature compared with other NSCLC subtypes and EBV-positive NPC. Higher TMB level and amplifications of B2M in PLELC patients may be used as potential biomarkers to indicate better treatment responses to ICIs.
Checkpoint inhibition • Tumor Mutational Burden • IO biomarker
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • B2M (Beta-2-microglobulin) • TNFAIP3 (TNF Alpha Induced Protein 3) • TGFB1 (Transforming Growth Factor Beta 1) • CDKN1B (Cyclin dependent kinase inhibitor 1B) • NFKBIA (NFKB Inhibitor Alpha 2)
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TMB-H • B2M mutation • TNFAIP3 mutation
5ms
Molecular clusters and functional drivers of IgM monoclonal gammopathies (AACR 2022)
Those metabolites had intermediate levels in C3. In conclusion, we identified three molecular clusters with distinct clinical, proteomic and metabolomic features, suggesting a potential biologic classification that may have therapeutic implications.
Tumor Mutational Burden • IO biomarker
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TMB (Tumor Mutational Burden) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • CD19 (CD19 Molecule) • IL6 (Interleukin 6) • CXCL8 (Chemokine (C-X-C motif) ligand 8) • TNFAIP3 (TNF Alpha Induced Protein 3) • IL10 (Interleukin 10) • SDC1 (Syndecan 1) • IL4 (Interleukin 4)
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MYD88 L265P • TNFAIP3 mutation
7ms
Genomic landscape of Epstein-Barr virus-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue. (PubMed, Mod Pathol)
Conversely, while EBV-negative MALT lymphomas typically show mutational abnormalities in the NF-κB pathway, other than the 1 TNFAIP3-mutated case, no other NF-κB pathway mutations were identified in the EBV-positive cases. EBV-positive MALT lymphomas often have either mutations or copy number abnormalities in IRF family or interacting genes, suggesting that this pathway may play a role in these lymphomas.
Journal
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BRAF (B-raf proto-oncogene) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • TNFAIP3 (TNF Alpha Induced Protein 3) • IRF8 (Interferon Regulatory Factor 8) • IRF2 (Interferon Regulatory Factor 2)
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BRAF mutation • TNFAIP3 mutation • IRF8 mutation
9ms
Simultaneous Disruption of XPO1 and A20 in Murine B Cells Influences Both B and T Cell Repertoire (ASH 2021)
Significance : We report that simultaneous disruption of essential regulators XPO1 and A20 in murine B cells encourages development of irregular B and T cell populations, and can stimulate a progressive CLL-like or T cell leukemia-like expansion. Continued investigation with these models can further our understanding of the relationship between overall immune function and these critical regulatory molecules, and can provide considerable insight to identifying pathways for selective targeting as a personalized therapy in several high-risk cancer types.
Preclinical • IO biomarker
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CD19 (CD19 Molecule) • TNFAIP3 (TNF Alpha Induced Protein 3) • XPO1 (Exportin 1) • CD5 (CD5 Molecule) • FCER2 (Fc Fragment Of IgE Receptor II)
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XPO1 E571K • TNFAIP3 mutation • CD19 expression • XPO1 mutation
11ms
Retrospective analyses of other iatrogenic immunodeficiency-associated lymphoproliferative disorders in patients with rheumatic diseases. (PubMed, Br J Haematol)
There were no significant factors for spontaneous regression or response rates according to the presence of mutations. Overall, OIIA-LPDs, especially DLBCL-types, showed favourable prognoses.
Retrospective data • Journal
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KMT2D (Lysine Methyltransferase 2D) • TNFA (Tumor Necrosis Factor-Alpha) • TNFAIP3 (TNF Alpha Induced Protein 3) • TNFRSF14 (TNF Receptor Superfamily Member 14)
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TNFAIP3 mutation
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methotrexate
11ms
TNFAIP3 mutation may be associated with favorable overall survival for patients with T-cell lymphoma. (PubMed, Cancer Cell Int)
To the best of our knowledge, we for the first time describe that TNFAIP3 mutations in non-CDS regions are associated with favorable OS for TCL patients, which might be a potential biomarker for the prognostic stratification of Chinese TCL patients.
Clinical • Journal
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TNFA (Tumor Necrosis Factor-Alpha) • TNFAIP3 (TNF Alpha Induced Protein 3)
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TNFAIP3 mutation
over1year
Frequent Somatic TET2 Mutations in Chronic NK-LGL Leukemia with Distinct Patterns of Cytopenias. (PubMed, Blood)
Patients with STAT3 mutation, inclusive of those with TET2 co-mutation, had lower hematocrit (HCT), hemoglobin (HGB), and absolute neutrophil count (ANC) compared to STAT3 wild-type patients (Welch's t-test, p<=0.015). We present the discovery of TET2 mutations in chronic NK-LGL leukemia and evidence that it identifies a unique molecular subtype.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta) • STAT3 (Signal Transducer And Activator Of Transcription 3) • TNFAIP3 (TNF Alpha Induced Protein 3)
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TET2 mutation • STAT3 mutation • TNFAIP3 mutation • PIK3CD mutation
almost2years
Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20. (PubMed, Front Immunol)
The onset of HA20 in patients with the ZnF domain disruption is earlier than patients with the OTU domain disruption. Compared to the OTU domain, the ZnF domain may be more closely related to musculoskeletal disorders.
Clinical • Journal
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TNFAIP3 (TNF Alpha Induced Protein 3)
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TNFAIP3 mutation
almost2years
Mutational Landscape of Grey Zone Lymphoma. (PubMed, Blood)
Poly-EBV-L cases presented a distinct mutational profile including STAT3 mutations and a significantly lower coding-mutation load in comparison to EBV-negative GZL. Our study highlights characteristic mutational patterns in GZL associated with presentation in the thymic niche suggesting a common cell of origin with disease evolution overlapping with related anterior mediastinal lymphomas.
Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • BCL2 (B-cell CLL/lymphoma 2) • BCL6 (B-cell CLL/lymphoma 6) • B2M (Beta-2-microglobulin) • STAT3 (Signal Transducer And Activator Of Transcription 3) • TNFAIP3 (TNF Alpha Induced Protein 3) • GNA13 (G Protein Subunit Alpha 13) • SOCS1 (Suppressor Of Cytokine Signaling 1)
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TP53 mutation • BCL6 rearrangement • STAT3 mutation • BCL2 rearrangement • TNFAIP3 mutation
almost2years
High throughput sequencing reveals high specificity of TNFAIP3 mutations in ocular adnexal marginal zone B-cell lymphomas. (PubMed, Hematol Oncol)
In conclusion, 80% of OA-MZL display mutations of either NK-κB compounds or chromatin modifiers. Lymphoid lesions of the OA bearing NF-κB compound mutations and/or mutations of acetyltransferase-encoding genes highly likely represent lymphomas.
Journal
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BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • DNMT3A (DNA methyltransferase 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • KMT2D (Lysine Methyltransferase 2D) • CREBBP (CREB binding protein) • TNFAIP3 (TNF Alpha Induced Protein 3) • EP300 (E1A binding protein p300) • IRF8 (Interferon Regulatory Factor 8) • BCL7A (BAF Chromatin Remodeling Complex Subunit BCL7A)
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BRAF mutation • ATM mutation • PTEN mutation • TNFAIP3 mutation