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    BIOMARKER:

    SETD2 mutation

    i
    Other names: SETD2, SET Domain Containing 2, Histone Lysine Methyltransferase, HIF-1, KMT3A, HYPB, Histone-Lysine N-Methyltransferase SETD2, Protein-Lysine N-Methyltransferase SETD2, Huntingtin-Interacting Protein B, Lysine N-Methyltransferase 3A, Huntingtin Yeast Partner B, SET Domain Containing 2, KIAA1732, P231HBP, HIP-1, SET2, Huntingtin Interacting Protein 1, Huntingtin-Interacting Protein 1, SET Domain-Containing Protein 2, FLJ23184, HSPC069, HBP231, SETD2, HSET2, HIF1, LLS
    Entrez ID:
    29072
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    11ms
    Tracking non-genetic evolution from primary to metastatic ccRCC: TRACERx Renal. (PubMed, Cancer Discov)
    We also uncover a co-evolution between the tumor and the T cell repertoire, as well as a longitudinal shift in the TME from an anti-tumor to an immunosuppressive state, linked to the acquisition of recurrently late ccRCC drivers 9p loss and SETD2 mutations. Our study reveals clinically-relevant and hitherto underappreciated non-genetic evolution patterns in ccRCC.
    Journal
    |
    SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • STING (stimulator of interferon response cGAMP interactor 1)
    |
    SETD2 mutation
    11ms
    Development and validation of a prognostic model based on m6A-related lncRNAs to predict prognosis for papillary renal cell cancer patients. (PubMed, Sci Rep)
    The results validated the discrimination ability of both the m6A-related lncRNA pRCC prognostic model and the pRCC clinical prognostic nomogram. We developed a clinical prognostic nomogram for pRCC using pRCC prognostic-associated m6A-related lncRNAs, which can be utilized for predicting the prognosis and immune landscape of pRCC patients.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
    |
    SETD2 mutation
    1year
    Understanding the biological processes of kidney carcinogenesis: an integrative multi-omics approach. (PubMed, Mol Syst Biol)
    Our pan-cancer analysis showed these relationships in other tumour types. Our study enhances the understanding of kidney carcinogenesis and its relation to risk factors and progression, with implications for other tumour types.
    Journal
    |
    PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • WT1 (WT1 Transcription Factor) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • GSTP1 (Glutathione S-transferase pi 1) • IL20RB (Interleukin 20 Receptor Subunit Beta) • ITK (IL2 Inducible T Cell Kinase)
    |
    PBRM1 mutation • BAP1 mutation • SETD2 mutation • PBRM1 mutation + SETD2 mutation
    1year
    Automated real-world data integration improves cancer outcome prediction. (PubMed, Nature)
    We demonstrate the feasibility of automated annotation from unstructured notes and its utility in predicting patient outcomes. The resulting data are provided as a public resource for real-world oncologic research.
    Journal • Real-world evidence • IO biomarker • Real-world
    |
    SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
    |
    SETD2 mutation
    1year
    Sudden Blast Crisis in a chronic myeloid leukemia patient in Treatment Free Remission: A case report and literature review. (PubMed, Acta Haematol)
    This case, along with others, emphasizes the necessity of implementing a long-term monitoring strategy following TKI discontinuation due to the potential for late onset of blast crisis. Systematic genetic studies in patients failing TFR should be properly carried out to further understand the mechanism and eventually, to predict or prevent such adverse event in patients in TFR.
    Review • Journal
    |
    SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
    |
    SETD2 mutation
    1year
    Acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations mimicking acute promyelocytic leukemia: A case report and literature review. (PubMed, Medicine (Baltimore))
    The comprehensive evaluation of bone marrow morphology, immunology, cytogenetics, and molecular biology is essential for the accurate diagnosis of acute myeloid leukemia.
    Review • Journal
    |
    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
    |
    NPM1 mutation • SETD2 mutation
    |
    Venclexta (venetoclax) • azacitidine
    1year
    Differences in mutations across tumour sizes in clear-cell renal cell carcinoma. (PubMed, BJU Int)
    Large and small ccRCCs are genomically different. Aggressive mutations, namely, SETD2, BAP1, and CDKN2A loss, are rarely observed in small ccRCCs and are observed more frequently in larger tumours. However, when present in tumours ≤7 cm, SETD2 mutations and CDKN2A loss were still independently associated with invasive disease, metastasis, worse survival, and recurrence after resection, after controlling for size.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • VHL (von Hippel-Lindau tumor suppressor) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
    |
    CDKN2A mutation • PBRM1 mutation • BAP1 mutation • VHL mutation • SETD2 mutation
    over1year
    Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome. (PubMed, Neurooncol Adv)
    CMMRD-associated gliomas have a specific oncogenesis that does not involve usual pathways and mutations seen in sporadic pediatric or adult glioblastomas. Frequent alterations in other pathways such as MAPK may suggest the use of other targeted therapies along with PD1 inhibitors.
    Journal • Mismatch repair • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • POLD1 (DNA Polymerase Delta 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • DICER1 (Dicer 1 Ribonuclease III) • EPHB2 (EPH Receptor B2) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
    |
    PD-L1 expression • POLD1 mutation • SETD2 mutation • POLE mutation + POLD1 mutation
    over1year
    MOICS, a novel classier deciphering immune heterogeneity and aid precise management of clear cell renal cell carcinoma at multiomics level. (PubMed, Cancer Biol Ther)
    Additionally, significant differences were observed in the genomic landscapes between the subtypes: MOICS1 exhibited mutations in TTN, BAP1, SETD2, MTOR, MUC16, CSMD3, and AKAP9, while MOICS2 was characterized by notable alterations in the TGF-β pathway. Overall, our work demonstrates that multi-immune omics remodeling analysis enhances the understanding of the immune heterogeneity in ccRCC and supports precise patient management.
    Journal
    |
    CD8 (cluster of differentiation 8) • mTOR (Mechanistic target of rapamycin kinase) • BAP1 (BRCA1 Associated Protein 1) • MUC16 (Mucin 16, Cell Surface Associated) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CD4 (CD4 Molecule) • TGFB1 (Transforming Growth Factor Beta 1) • CSMD3 (CUB And Sushi Multiple Domains 3)
    |
    BAP1 mutation • MTOR mutation • TTN mutation • SETD2 mutation
    over1year
    Proteogenomic Characterization Reveals Estrogen Signaling as a Target for Never-Smoker Lung Adenocarcinoma Patients without EGFR or ALK Alterations. (PubMed, Cancer Res)
    Collectively, this study enhanced our understanding of NENA NSLA by elucidating the proteogenomic landscape and proposed saracatinib as a potential treatment for this patient population that lacks effective targeted therapies. The proteogenomic landscape in never-smoker lung cancer without known driver mutations reveals prognostic proteins and enhanced estrogen signaling that can be targeted as a potential therapeutic strategy to improve patient outcomes.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • STK11 (Serine/threonine kinase 11) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • LLGL2 (LLGL Scribble Cell Polarity Complex Component 2) • ST14 (ST14 transmembrane serine protease matriptase)
    |
    STK11 mutation • ALK fusion • ROS1 fusion • SETD2 mutation
    |
    saracatinib (AZD0530)
    over1year
    Clinicopathological and molecular genetic alterations in monomorphic-epitheliotropic intestinal T-cell lymphoma of the small intestine. (PubMed, Eur J Med Res)
    Our findings demonstrate that mutations in JAK3 and STAT5B of the JAK/STAT pathway and inactivation of the oncogene SETD2 markedly contribute to the lymphomagenesis of MEITL.
    Journal • IO biomarker
    |
    TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • CD8 (cluster of differentiation 8) • BCOR (BCL6 Corepressor) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • JAK3 (Janus Kinase 3) • NCAM1 (Neural cell adhesion molecule 1) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • ITGAE (Integrin Subunit Alpha E) • SPN (Sialophorin)
    |
    TP53 mutation • CD8 expression • BCOR mutation • JAK3 mutation • SETD2 mutation
    over1year
    From the archives of MD Anderson Cancer Center: Monomorphic epitheliotropic intestinal T-cell lymphoma: A case with an unusual immunophenotype and discussion of differential diagnosis. (PubMed, Ann Diagn Pathol)
    Retreatment led to another one-year interval of clinical remission, but at last follow up the patient has relapsed disease involving the ileum and colon. We also discuss the differential diagnosis of MEITL.
    Review • Journal • IO biomarker
    |
    ALK (Anaplastic lymphoma kinase) • BCL2 (B-cell CLL/lymphoma 2) • CD20 (Membrane Spanning 4-Domains A1) • CD8 (cluster of differentiation 8) • TNFRSF8 (TNF Receptor Superfamily Member 8) • CCND1 (Cyclin D1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CD34 (CD34 molecule) • NCAM1 (Neural cell adhesion molecule 1) • CD5 (CD5 Molecule) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • GZMB (Granzyme B) • IRF4 (Interferon regulatory factor 4) • MME (Membrane Metalloendopeptidase) • CD7 (CD7 Molecule) • CD99 (CD99 Molecule) • B3GAT1 (Beta-1,3-Glucuronyltransferase 1)
    |
    SETD2 mutation