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    BIOMARKER:

    TMB-H

    i
    Other names: TMB | Tumor Mutational Burden
    Related biomarkers:
    Expression
    Others
    Related tests:
    1d
    Development and validation of a cuproptosis-immune prognostic signature for risk stratification and personalized therapy in cutaneous melanoma. (PubMed, Discov Oncol)
    Single-cell RNA sequencing illustrated the cellular distribution of model genes, and functional experiments demonstrated that XCL2 suppresses melanoma cell proliferation, migration, and invasion. This study develops and validates a cuproptosis-immune integrated prognostic signature for SKCM, providing a framework to link cuproptosis-associated biology with immune microenvironmental features, risk stratification, and potential therapeutic decision-making.
    Journal • Tumor mutational burden • IO biomarker
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    TMB (Tumor Mutational Burden) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • IL2RA (Interleukin 2 receptor, alpha) • HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • CCL8 (C-C Motif Chemokine Ligand 8) • IFIH1 (Interferon Induced With Helicase C Domain 1)
    |
    TMB-H • TMB-L
    2d
    Integrated Molecular and Clinical Analysis of Thymic Epithelial Tumors. (PubMed, JCO Precis Oncol)
    Integrated profiling of TETs reveals distinct genomic, transcriptomic, and immune features across subtypes of TETs and identifies potentially actionable therapeutic targets that may inform future treatment strategies.
    Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • MTAP (Methylthioadenosine Phosphorylase) • MSLN (Mesothelin) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NECTIN4 (Nectin Cell Adhesion Molecule 4) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
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    PD-L1 expression • TP53 mutation • TMB-H • MSI-H/dMMR • PD-L1 overexpression • HER-2 overexpression • EGFR expression • TMB-L • CDKN2A deletion
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    MI Tumor Seek™
    2d
    An immunogenomic classification of solid tumours reveals subtype-specific therapeutic vulnerabilities for immunotherapy. (PubMed, EBioMedicine)
    Leveraging clinical feasible RNA-seq and TMB analysis, our model exhibits robust predictive efficacy of ICB response in multiple cancers, enabling subtype-tailored therapeutic combinations to improve immunotherapy response.
    Journal
    |
    TMB (Tumor Mutational Burden) • MTAP (Methylthioadenosine Phosphorylase) • IFNG (Interferon, gamma) • TGFB1 (Transforming Growth Factor Beta 1)
    |
    TMB-H • TMB-L
    |
    celecoxib oral
    2d
    Comparative analysis of genomic profiles and clinical outcomes in cholangiocarcinoma and gallbladder cancer. (PubMed, Sci Rep)
    In the MSKCC cohort, high tumor mutational burden (TMB-Hmed) correlated with poorer OS (HR = 1.43, P = 0.01), while PBRM1 mutations were associated with improved survival (HR = 0.50, P = 0.02). This study underscores the distinct genomic profiles of GBC and CCA, offering valuable insights into the molecular underpinnings of these aggressive cancers and supporting the development of precision medicine strategies.
    Clinical data • Journal • Tumor mutational burden
    |
    KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • CCNE1 (Cyclin E1) • MCL1 (Myeloid cell leukemia 1) • PBRM1 (Polybromo 1) • ARID2 (AT-Rich Interaction Domain 2) • SOX2
    |
    TMB-H • ARID1A mutation
    4d
    Identification and external validation of a prognostic signature based on bone morphogenetic protein-related mRNAs for kidney renal clear cell carcinoma. (PubMed, Discov Oncol)
    This nine-BRM prognostic model serves as a potential prognostic stratification tool that may complement existing clinical parameters in evaluating the outcomes of KIRC patients.
    Journal • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • ITGAX (Integrin Subunit Alpha X) • L1CAM (L1 cell adhesion molecule)
    |
    TMB-H
    |
    docetaxel • dactolisib (RTB101)
    4d
    NF1 mutation may be associated with lung-tropic metastasis in cutaneous melanoma: a genomic analysis of 520 patients. (PubMed, Clin Exp Metastasis)
    NF1 mutation is the strongest gene-level correlate of lung-selective metastasis in cutaneous melanoma. The NF1-mutant subtype may represent a dual-biomarker population and could warrant both pulmonary surveillance and prospective evaluation for immunotherapy.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1)
    |
    TMB-H • BRAF mutation • NRAS mutation • BRAF wild-type • RAS wild-type
    |
    MSK-IMPACT
    |
    Keytruda (pembrolizumab)
    5d
    Immune Checkpoint Inhibitors: efficacy, safety, and biomarkers - a systematic review. (PubMed, Front Oncol)
    Future research should focus on refining patient selection criteria, optimizing toxicity management protocols, and identifying novel predictive biomarkers for ICI therapy. Understanding these aspects will facilitate the development of more effective ICI-based treatments with improved benefit-to-risk ratios, ultimately enhancing patient outcomes in oncology.
    Review • Journal • Checkpoint inhibition • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    TMB (Tumor Mutational Burden)
    |
    PD-L1 expression • TMB-H
    5d
    Fumarate Hydratase-deficient Renal Cell Carcinoma - A Multicentric Comprehensive Clinical, Pathological, and Molecular Analysis of 12 Cases. (PubMed, Pathobiology)
    Our findings highlight the pronounced morphological heterogeneity of FHd RCC and the critical role of combined FH and 2SC immunohistochemistry for accurate diagnosis. FHd RCC should be recognized as a distinct, highly malignant renal neoplasm, warranting comprehensive histological, immunohistochemical, and genetic assessment, along with genetic counseling to identify potential hereditary background.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • FH (Fumarate Hydratase) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8)
    |
    TMB-H
    6d
    CDK4/6 inhibition with dual immunotherapy in chemorefractory SMARCA4-deficient undifferentiated tumor: a case report. (PubMed, Front Immunol)
    Guided by precision oncology targeting both immunogenic profile and cell-cycle dysregulation, the patient was treated with dual immunotherapy (pembrolizumab plus ipilimumab) combined with the CDK4/6 inhibitor palbociclib. To our knowledge, this is the first report demonstrating the efficacy of dual checkpoint blockade plus CDK4/6 inhibition in SMARCA4-UT. This case highlights potential of biomarker-driven therapies to overcome resistance in rare thoracic neoplasms.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    TP53 mutation • TMB-H • PD-L1 negative
    |
    Keytruda (pembrolizumab) • Yervoy (ipilimumab) • Ibrance (palbociclib)
    6d
    Navigating luminal heterogeneity: etiology-based proteogenomic subtyping for targeted treatment strategies in breast cancer. (PubMed, Mol Cancer)
    This study uncovers environmental mutagenesis as a previously overlooked but critical driver of luminal breast cancer heterogeneity in East Asian patients. We establish a proteogenomics-transformative scheme to guide risk stratification and subtype-specific vulnerabilities, offering a precision oncology strategy for early-stage East Asian breast cancer management.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • CDK4 (Cyclin-dependent kinase 4) • HDAC2 (Histone deacetylase 2) • APOBEC3B (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3B)
    |
    TMB-H
    |
    Prosigna® Breast Risk of Recurrence (ROR) Test
    6d
    Intrathecal nivolumab in metastatic solid tumors with leptomeningeal disease: dose escalation part of the multicenter IT-PD1/NOA-26 phase 1 trial. (PubMed, Nat Cancer)
    Participant-reported quality of life remained stable. Intraventricular nivolumab has demonstrated safety and feasibility (ClinicalTrials.gov: NCT05112549 ).
    P1 data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • PD-1 (Programmed cell death 1)
    |
    TMB-H
    |
    Opdivo (nivolumab)
    6d
    Construction of an eight-disulfidptosis-related long non-coding RNA prognostic signature and mechanistic investigation of key molecule MKLN1-AS driving hepatocellular carcinoma progression via the miR-139-5p/LRPPRC axis. (PubMed, Discov Oncol)
    Our study develops and validates a robust DRLs-based prognostic model for HCC, offering a valuable tool for risk stratification and outcome prediction. MKLN1-AS was identified as a novel oncogenic lncRNA that drives HCC progression via the miR-139-5p/LRPPRC axis to inhibit disulfidptosis. The functional and mechanistic elucidation of MKLN1-AS underscores its clinical relevance and highlights its potential as a promising therapeutic target for HCC.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MIR139 (MicroRNA 139) • LRPPRC (Leucine Rich Pentatricopeptide Repeat Containing)
    |
    TMB-H