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GENE:

TMB (Tumor Mutational Burden)

i
Other names: TMB | Tumor Mutational Burden
1d
Epidemiology and Real-World Outcomes in Patients with Human Epidermal Growth Factor Receptor 2 (HER2)-Mutant Non-small Cell Lung Cancer by Region: A Targeted Literature Review. (PubMed, Target Oncol)
Three such agents have gained accelerated US Food and Drug Administration (FDA) approval for use in previously treated HER2-mutant NSCLC: the antibody-drug conjugate, trastuzumab deruxtecan; the HER2-specific tyrosine kinase inhibitor (TKI), zongertinib; and the HER2/EGFR TKI, sevabertinib. Zongertinib has also been granted accelerated FDA approval in a first-line setting. The emergence of multiple treatment options highlights the importance of early HER2 mutation testing to guide treatment sequencing and maximize patient benefit.
Review • Journal • Real-world evidence • Tumor mutational burden • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • TMB (Tumor Mutational Burden)
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EGFR mutation • HER-2 mutation
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Enhertu (fam-trastuzumab deruxtecan-nxki) • Hernexeos (zongertinib) • Hyrnuo (sevabertinib)
1d
Nationwide genomic data analysis of central nervous system tumors in Japan based on C-CAT database. (PubMed, Int J Clin Oncol)
FoundationOne® CDx exhibits greater number of mutations, copy number alterations, and generating therapeutic suggestions, while GenMineTOP excels in identifying fusion genes and germline variants. These findings underscore that each CGPT possesses distinct analytical strengths, and the choice of platform may influence the genomic landscape and therapeutic opportunities identified in CNS tumor patients.
Journal • Tumor mutational burden • BRCA Biomarker
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3) • MSH6 (MutS homolog 6) • KIAA1549 • SEPTIN14 (Septin 14) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)
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TP53 mutation
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FoundationOne® CDx
1d
A risk scoring model for lung squamous cell carcinoma based on epithelial-mesenchymal transition-related genes: an integrative analysis of prognosis and immune infiltration characteristics. (PubMed, PeerJ)
We developed a biologically interpretable EMT-based prognostic model that stratifies survival and reflects immune-microenvironment heterogeneity in LUSC. Larger, stage-balanced and immunotherapy-treated cohorts are needed to further validate its clinical utility.
Journal • Tumor mutational burden • IO biomarker
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TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • CD4 (CD4 Molecule) • ALDOA (Aldolase Fructose-Bisphosphate A)
1d
Chylous Ascites: A Rare Initial Presentation of High-Grade Follicular Lymphoma. (PubMed, Case Rep Oncol Med)
In selected postoperative or frail patients, rituximab monotherapy can serve as an effective bridge to full chemotherapy, facilitating recovery and improving outcomes. Early diagnosis and targeted treatment remain essential to prevent complications from lymphatic loss and to optimize prognosis in lymphoma-associated chylous ascites.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • TET2 (Tet Methylcytosine Dioxygenase 2)
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TMB-H • TET2 mutation • EZH2 mutation
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Rituxan (rituximab)
1d
Advances in immunotherapy for renal cell carcinoma: a comprehensive review. (PubMed, Front Immunol)
Pivotal phase III trials have established superior survival for contemporary ICI-based regimens over sunitinib; however, cross-trial heterogeneity, differences in IMDC risk distribution, varying toxicity profiles, and selection of fitter trial populations complicate simple regimen ranking...Taken together, the field is moving from empirical regimen selection toward a model that integrates disease tempo, patient fitness, translational biomarkers, and mechanism-based sequencing. Future progress will depend on composite biomarker validation, biomarker-enriched trials, rational resistance-directed combinations, and structural measures that improve external validity and equitable access.
Review • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • PBRM1 (Polybromo 1)
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sunitinib
1d
The application and challenges of immune checkpoint inhibitors in lung cancer therapy. (PubMed, Front Immunol)
By synthesizing data on both favorable therapeutic outcomes and the spectrum of irAEs, we emphasize the necessity of personalized immunotherapy. Ultimately, this review looks forward to future advancements aimed at enhancing the precision and safety of lung cancer treatment, providing a roadmap for more tailored clinical interventions.
Review • Journal • Checkpoint inhibition • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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TMB (Tumor Mutational Burden)
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PD-L1 expression
2d
Trial suspension
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TMB (Tumor Mutational Burden)
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TMB-H
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Libtayo (cemiplimab-rwlc)
2d
SMARCA4 mutations drive metastatic progression and predict poor survival in breast cancer based on a real-world cohort study. (PubMed, Discov Oncol)
Additionally, the mutant group exhibited higher TMB (p < 0.05), poorer prognosis in high-MSI patients (p = 0.04), and frequent co-mutations in TP53 and PIK3CA. SMARCA4 mutation is an independent adverse prognostic factor in breast cancer (HR = 1.6, p = 0.02), linked to enhanced metastasis, altered HER2/HR prognostic value, and genomic instability, with potential as a prognostic biomarker.
Journal • Real-world evidence • Tumor mutational burden
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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HER-2 positive • TP53 mutation • TMB-H • HR positive • PIK3CA mutation
2d
Clear Cell Chondrosarcoma With Somatic VHL Inactivation: A Case Report With Integrated Genomic and Transcriptomic Analysis. (PubMed, Genes Chromosomes Cancer)
To our knowledge, this report is the first to describe a molecularly profiled CCC with somatic VHL inactivation. These results expand the evolving genomic spectrum of CCC beyond its previously known IDH-wildtype status and suggest that VHL pathway dysregulation may contribute to tumorigenesis in a subset of cases.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • COL2A1 (Collagen Type II Alpha 1 Chain)
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TMB-L • VHL mutation • IDH wild-type
2d
Multi-Omics Characterization of ABHD12 Across Pan-Cancer and Validation of Its Role in Promoting Proliferation and Metastasis in Breast Cancer. (PubMed, Breast Cancer (Dove Med Press))
ABHD12 might modulate macrophage polarization via the AMPK signaling pathway, leading to the remodeling of the tumor immune microenvironment. In vitro and vivo studies confirm its pro-tumorigenic role in BRCA, highlighting ABHD12 as a multifunctional biomarker and a molecular nexus linking lipid metabolism, immunity, and treatment resistance-warranting further study.
Journal • Tumor mutational burden • BRCA Biomarker • IO biomarker • Pan tumor
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • BRCA (Breast cancer early onset) • ABHD12 (Abhydrolase Domain Containing 12)
2d
The Immune Landscape of Acral Melanoma: From Basic to Clinical. (PubMed, Cancer Med)
Continued research into innovative combination approaches and predictive biomarkers is urgently needed to improve survival in AM.
Review • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8)
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TMB-L
3d
Quantitative BRAF p.V600E mutation monitoring in cerebrospinal fluid cell-free DNA reflects therapeutic response to BRAF/MEK inhibitors in papillary craniopharyngioma: a report of two cases. (PubMed, Acta Neuropathol Commun)
Here, we present two patients with BRAF p.V600E-mutant PCP who achieved exceptional tumor volume reductions of 95% and 98% following targeted therapy with dabrafenib and trametinib. Notably, Case 1 maintained the negative mutation status and did not experience recurrence during the 9-month follow-up period. These findings demonstrate that digital polymerase chain reaction-based monitoring of CSF-derived cfDNA is a sensitive and objective tool for assessing molecular response in PCP, reflecting the real-time efficacy of targeted treatment and providing a framework for individualized management and early detection of recurrence in precision neurooncology.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden)
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BRAF V600E • BRAF V600
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Mekinist (trametinib) • Tafinlar (dabrafenib)