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BIOMARKER:

TMB-L

i
Other names: TMB | Tumor Mutational Burden
Related biomarkers:
4d
Melanomas arising in blue nevi exhibit absence of TERT promoter mutations, low tumor mutational burden, and high frequency of distant metastases and disease-related mortality: a clinicopathologic and molecular study of 11 cases. (PubMed, Virchows Arch)
The presence of MS appeared to correlate with worse clinical outcomes, as 67% of patients with MS died, compared to none without. Our findings expand the recognized molecular diversity of MBNs and provide insights into their biological behaviors, underscoring the clinical significance of identifying potential prognostic factors.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • GNAQ (G Protein Subunit Alpha Q) • TERT (Telomerase Reverse Transcriptase) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • SOX17 (SRY-Box Transcription Factor 17)
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TMB-L • SF3B1 mutation
4d
Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma. (PubMed, Mol Oncol)
Variants were significantly enriched in genes associated with GABAergic and serotonergic neuronal cell types, as well as in pathways regulating cell cycle and neurogenesis. These findings suggest that, in addition to VHL loss, dysregulation of neuronal differentiation programs and cell cycle control may play important roles in hemangioblastoma tumorigenesis.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • VHL (von Hippel-Lindau tumor suppressor)
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TMB-L
4d
CARMN::NOTCH2 Fusion-Positive Malignant Glomus Tumor of the Liver: A Rare Tumor With Review of Literature. (PubMed, Int J Surg Pathol)
To our knowledge, this represents only the third reported malignant hepatic glomus tumor with molecular confirmation of CARMN::NOTCH2 fusion. This tumor highlights the diagnostic challenges posed by hepatic glomus tumors, underscores the importance of integrating molecular studies into unusual hepatic neoplasms, and expands the clinicopathologic and molecular spectrum of this exceedingly rare entity.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • MDM2 (E3 ubiquitin protein ligase) • NOTCH2 (Notch 2) • VIM (Vimentin)
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TMB-L
4d
Genomic profiling of meiotic errors and early malignant transformation events in ovarian mature teratoma. (PubMed, Reproduction)
Mutational signature analysis showed enrichment of apolipoprotein B mRNA editing enzyme catalytic subunit-associated signatures. This study suggests novel perspectives on the mechanisms of OMT tumor development and malignant transformation.
Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • APOB (Apolipoprotein B)
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TP53 mutation • PIK3CA mutation • TMB-L
4d
Innovative immunotherapeutic strategies for thyroid cancer: challenges and opportunities. (PubMed, Clin Transl Oncol)
This review aims to discuss the progress and pitfalls of various immunotherapy approaches for thyroid cancer, including ICI therapies, adoptive cell therapies (CAR-T cell, TCR-T cell, and TIL therapy), oncolytic virotherapy, and macrophage/myeloid-modulating immunotherapies. A deeper understanding of subtype-specific immunobiology and precise tailoring of immunotherapeutic interventions may ultimately enable more effective and durable clinical responses for patients with advanced thyroid cancer.
Review • Journal • Tumor mutational burden • IO biomarker
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TMB (Tumor Mutational Burden)
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TMB-L
9d
Ginsenosides as Emerging Adjuvants for Immunotherapy in Gastrointestinal Cancers. (PubMed, J Gastroenterol Hepatol)
However, the pharmacological targets, optimal combinations, and predictive biomarkers for ginsenoside-based adjuvant therapy remain poorly defined. Integration of systems pharmacology, single-cell technologies, and modern clinical trial design will be essential to clarify the role of ginsenosides as partners in immunotherapy for GI cancers.
Review • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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TMB (Tumor Mutational Burden)
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TMB-L
9d
Diffuse Pleural Mesothelioma in Young (Age ≤50 Years) and Very Young (Age ≤35 Years) Patients: Clinical Characteristics, Genomics, and Survival. (PubMed, JCO Precis Oncol)
Young patients with DPM have strong personal and family histories of cancer, and heterogeneous somatic and germline alterations, indicating divergent underlying biology. With the increasing prevalence of young adults with cancers, mesotheliomas, although uncommon, should be on the differential for patients even without asbestos exposure history in this age group.
Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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TMB-L
11d
Thymic epithelial tumors at the crossroads of immunity, autoimmunity, and immunotherapy. (PubMed, Cancer Immunol Immunother)
Finally, we review rational therapeutic strategies such as vascular endothelial growth factor-tyrosine kinase inhibitors-ICI combinations, radiotherapy-ICI approaches, perioperative immunotherapy, and emphasize the need for biomarker-enriched trial design. TETs provide a powerful model to understand how failure of central tolerance can simultaneously sensitize tumors to immune attack and prime patients for catastrophic toxicity, with implications that extend to other low-TMB, immune-infiltrated malignancies.
Review • Journal • Tumor mutational burden • IO biomarker
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TMB (Tumor Mutational Burden)
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TMB-L
12d
DNA Methylation Stochasticity is Linked to Transcriptional Variability and Convergent Epigenetic Disruption Across Genetic Subtypes of Acute Myeloid Leukemia. (PubMed, Cancer Res)
Finally, the hypomethylating drug decitabine led to reduction of DNA methylation entropy specifically in IDH2-mutant AML cells. Overall, this approach identified a convergent program of epigenetic dysregulation in leukemia, clarifying the contribution of specific genetic mutations to stochastic disruption of the epigenetic and transcriptional landscapes of AML.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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IDH2 mutation • TMB-L
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decitabine
12d
Genomic landscape and subgroup stratification of thymic epithelial tumors: a systematic meta-analysis of next-generation sequencing data. (PubMed, Front Oncol)
Network and pathway analyses revealed convergent oncogenic hubs and distinct signaling dependencies across subgroups. This large-scale integrative study provides a re ned map of the genetic landscape of thymic epithelial tumors, highlights biologically meaningful heterogeneity, and establishes a framework to guide future research and the development of targeted therapies.
Retrospective data • Review • Journal • Next-generation sequencing • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden)
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TP53 mutation • TMB-L
13d
A multimodal neoadjuvant strategy incorporating PDT, RFA, and ICIs results in a notable pathological response and preservation of the sphincter in microsatellite stable low rectal cancer: A highly distinctive case report and literature review. (PubMed, Photodiagnosis Photodyn Ther)
The treatment was well tolerated, with no severe treatment-related adverse events observed. This case suggests that combining local tumor ablation with systemic immunomodulatory therapy may represent a promising strategy to enhance immunotherapy responsiveness and facilitate organ-preserving treatment in selected patients with MSS rectal cancer.
Journal • Tumor mutational burden • IO biomarker
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TMB (Tumor Mutational Burden)
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TMB-L
13d
Early-Onset Oral Squamous Cell Carcinoma: Emerging Biological Insights, Risk Factors and Clinical Implications. (PubMed, J Oral Pathol Med)
These findings highlight the urgent need for age-specific prognostic tools, biomarker-guided therapies, and early detection protocols. International collaboration will be key to improving survival and long-term quality of life in this growing patient population.
Review • Journal • Tumor mutational burden
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1)
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TP53 mutation • TMB-L