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    BIOMARKER:

    TMB-H

    i
    Other names: TMB | Tumor Mutational Burden
    Related biomarkers:
    Expression
    Others
    Related tests:
    1d
    Immunotherapy resistance in colorectal cancer: therapeutic strategies and biomarker-guided approaches. (PubMed, Cancer Cell Int)
    We also highlight clinically relevant biomarkers, including MSI/MMR status, tumor mutational burden, immune contexture, Immunoscore, circulating tumor DNA, microbiome profiles, and spatial or AI-assisted multi-marker models. This review summarizes emerging strategies to enhance therapeutic efficacy in CRC and maps each modality to the tumor-intrinsic or tumor-extrinsic resistance barriers it is most likely to overcome.
    Review • Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability)
    |
    TMB-H • MSI-H/dMMR
    2d
    (BLOOM): Lactulose to Improve Gut Health in Cancer Patients Receiving Immunotherapy (clinicaltrials.gov)
    P1/2, N=55, Recruiting, University of Chicago | Not yet recruiting --> Recruiting
    Enrollment open
    |
    TMB (Tumor Mutational Burden)
    |
    TMB-H
    2d
    Severe renal toxicity following adjuvant envafolimab in a patient with ultra-hypermutated (POLE) stage II colorectal cancer: a case report. (PubMed, AME Case Rep)
    For early-stage POLE-mutated CRC with favorable prognosis, off-label adjuvant immunotherapy may bring unnecessary toxicity risks. It is necessary to conduct rigorous patient selection, comprehensive risk-benefit evaluation, and close monitoring of organ function during treatment, so as to provide reference for the standardized clinical application of ICIs in this population.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • POLE (DNA Polymerase Epsilon)
    |
    BRAF V600E • KRAS mutation • TMB-H • BRAF V600 • POLE mutation
    |
    Enweida (envafolimab)
    2d
    Construction of PANoptosis-related lncRNA prognostic model and immunotherapy sensitivity analysis in lung adenocarcinoma. (PubMed, J Cardiothorac Surg)
    In summary, the 6 PANoptosis-related lncRNAs can well predict the prognosis of LUAD patients, which may provide new insight for survival prediction and clinical immunotherapy of LUAD patients.
    Journal • IO biomarker
    |
    TMB (Tumor Mutational Burden) • CD4 (CD4 Molecule)
    |
    TMB-H • TMB-L
    3d
    RecQ DNA helicases germline variants in Lynch-like syndrome. (PubMed, Genet Med Open)
    A single LoF variant in RecQ DNA helicase genes can result in significant DNA repair deficiency, leading to genomic instability and contributing to CRC development in LLS. Therefore, we present evidence for incorporating RECQL5 into genetic testing panels for CRC risk assessment, which would enhance both diagnosis and treatment outcomes.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • WRN (WRN RecQ Like Helicase) • RECQL5 (RecQ Like Helicase 5) • DRD (DNA Repair Deficiency)
    |
    TMB-H • DDR
    3d
    Correlation between tumor mutational burden and CT radiographic features in EGFR exon 19 deletion-mutated lung adenocarcinoma: a diagnostic accuracy study. (PubMed, Front Med (Lausanne))
    CT-based radiological features are significantly correlated with TMB status in lung adenocarcinoma. A composite model incorporating these features demonstrates high diagnostic accuracy for identifying high TMB, offering a valuable non-invasive tool for guiding personalized treatment strategies.
    Journal • Tumor mutational burden • IO biomarker
    |
    EGFR (Epidermal growth factor receptor) • TMB (Tumor Mutational Burden)
    |
    EGFR mutation • TMB-H • EGFR exon 19 deletion • TMB-L
    6d
    Study of Relatlimab and Nivolumab (Opdualag) in Replication Repair Deficient HGG and DIPG (clinicaltrials.gov)
    P2, N=12, Not yet recruiting, Nationwide Children's Hospital
    New P2 trial
    |
    TMB (Tumor Mutational Burden)
    |
    TMB-H
    |
    Opdualag (nivolumab/relatlimab-rmbw) • relatlimab (BMS-986016)
    6d
    Aristolochic Acid and Hepatocellular Carcinoma: A Critical Review of Genotoxic and Inflammatory Mechanisms. (PubMed, Int J Mol Sci)
    Nevertheless, the primary public health priority pertains to the prevention of AA exposure. Further epidemiological and mechanistic studies are urgently needed.
    Review • Journal • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • PDK4 (Pyruvate Dehydrogenase Kinase 4)
    |
    TP53 mutation • TMB-H • RAS mutation
    6d
    Peri-Implant Gingival Undifferentiated SWI/SNF Complex-Deficient Tumor with Molecularly Confirmed Biallelic SMARCA4 Inactivation: Diagnostic Pitfalls and Genomic Characterization. (PubMed, Diagnostics (Basel))
    The patient initiated carboplatin-paclitaxel and achieved a partial response at one month with further shrinkage by four months. Rapidly enlarging peri-implant gingival masses should prompt timely biopsy and SWI/SNF marker testing when histology is high-grade and lineage-ambiguous. NGS-based molecular profiling confirms diagnosis, elucidates mechanism, and reveals actionable targets in this rare tumor class.
    Journal • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KEAP1 (Kelch Like ECH Associated Protein 1) • MTAP (Methylthioadenosine Phosphorylase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • MAT2A (Methionine Adenosyltransferase 2A)
    |
    TP53 mutation • TMB-H • CDKN2A deletion • MTAP deletion • KEAP1 mutation
    |
    Oncomine™ Comprehensive Assay Plus
    |
    carboplatin • paclitaxel
    7d
    D07001 Softgel-Capsules and Capecitabine Combination Therapy in Patients With Advanced Biliary Tract Cancer (clinicaltrials.gov)
    P3, N=195, Recruiting, InnoPharmax Inc. | Not yet recruiting --> Recruiting
    Enrollment open
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • FGFR (Fibroblast Growth Factor Receptor) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    KRAS mutation • TMB-H • KRAS G12C • BRAF mutation • KRAS G12
    |
    5-fluorouracil • capecitabine • irinotecan • leucovorin calcium • gemcitabine oral (D07001)
    7d
    Dual mechanism of immune escape shapes the genetic and immunogenic landscape of mismatch repair-deficient colorectal tumours. (PubMed, Gut)
    We show that immunosurveillance plays a dual role in constraining tumour development and sculpting the genetic and immunological landscapes of MMRd tumours. This evasion strategy explains the paradox of immune-rich yet progressive MMRd tumours and highlights vulnerabilities that could be exploited by neoantigen-based or immune reactivation therapies.
    Journal • Mismatch repair • Tumor mutational burden • MSi-H Biomarker • dMMR
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8)
    |
    TMB-H • MSI-H/dMMR
    9d
    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
    |
    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