Pathology

Overview

Minagene's Tumor Mutation Burden (TMB) Test is a specialized genetic test designed to assess the genomic instability of tumors by measuring the tumor mutation burden. This advanced test utilizes high-throughput sequencing techniques to analyze the number of somatic mutations present in the tumor genome, providing valuable insights into tumor biology, prognosis, and potential response to immunotherapies.

Methodology

The TMB Test employs

The TMB Test employs next-generation sequencing (NGS) technology to analyze the tumor genome and detect somatic mutations. It assesses the total number of non-synonymous somatic mutations, including base substitutions, insertions, and deletions, across a broad range of genes. By quantifying the mutation burden, the test provides a measure of genomic instability and potential neoantigen formation in the tumor.

Key Highlights of the Test:

Key Highlights of the Test:

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  -Comprehensive Genomic Instability Assessment: Minagene’s TMB Test offers a comprehensive analysis of genomic instability by quantifying the tumor mutation burden. It assesses the total number of somatic mutations, including both high and low allele frequency variants, providing a more comprehensive understanding of the tumor’s genetic landscape.

  
  

  -Prognostic and Predictive Value: TMB has emerged as a valuable biomarker with prognostic and predictive value in cancer. High TMB has been associated with increased response rates to immune checkpoint inhibitors and improved survival outcomes in certain cancer types. The TMB Test helps identify patients who may benefit from immunotherapy and informs treatment decisions.

  
  

  -Prediction of Immunotherapy Response: TMB is recognized as a potential biomarker for predicting response to immune checkpoint inhibitors, such as PD-1/PD-L1 inhibitors. The TMB Test provides valuable information on the tumor’s mutational load, enabling clinicians to identify patients with a higher likelihood of benefiting from immunotherapeutic approaches.

  
  

  -Complementary Biomarker: TMB assessment complements other biomarkers, such as PD-L1 expression, in guiding immunotherapy treatment decisions. The combination of TMB and PD-L1 expression analysis provides a more comprehensive understanding of a patient’s potential response to immune checkpoint inhibitors.

  
  

  -Research and Clinical Trials: The TMB Test can be used in research studies and clinical trials focusing on cancer. The test’s comprehensive analysis of the tumor genome and assessment of genomic instability contribute to a better understanding of tumor biology and the development of targeted therapies.

  
  

When to Consider This Test:

-Treatment Decision-Making: The TMB Test is considered when making treatment decisions, especially for patients with advanced or metastatic cancer. It helps identify patients who may benefit from immunotherapy, particularly immune checkpoint inhibitors, by predicting potential treatment response based on the tumor’s mutation burden.

-Prognostic Assessment: The test aids in prognostic assessment by evaluating the tumor’s genomic instability. High TMB has been associated with improved survival outcomes in certain cancer types, providing valuable prognostic information for patient management.

-Immunotherapy Response Prediction: The TMB Test is valuable for predicting response to immune checkpoint inhibitors. Patients with high TMB are more likely to respond to immunotherapeutic approaches, making the test useful in guiding treatment decisions and optimizing patient outcomes.

-Combination Biomarker Analysis: TMB assessment complements other biomarkers, such as PD-L1 expression, in guiding immunotherapy treatment decisions. Combined analysis of TMB and PD-L1 expression provides a more comprehensive understanding of a patient’s potential response to immune checkpoint inhibitors.

-Research and Clinical Trials: The TMB Test can be utilized in research studies and clinical trials focusing on cancer. The comprehensive genomic analysis provided by the test contributes to a better understanding of tumor biology, treatment response, and the development of personalized therapies.

Overview

Minagene's Somatic Mutation Panel is a cutting-edge genetic evaluation tool designed to aid physicians in the assessment of somatic mutations in cancer patients. This advanced panel utilizes state-of-the-art technology and methodologies to identify and analyze genetic alterations that play a crucial role in tumor development, progression, and response to treatment. By providing comprehensive genomic profiling, the Somatic Mutation Panel offers valuable insights to guide personalized cancer care and optimize treatment strategies.

Methodology

Somatic Mutation Panel

The Somatic Mutation Panel employs next-generation sequencing (NGS) technology to analyze tumor tissue samples. It utilizes targeted gene panels specifically designed to detect somatic mutations across a wide range of cancer-associated genes. The NGS-based approach enables the simultaneous assessment of multiple genetic alterations, including single nucleotide variants (SNVs), insertions and deletions (Indels), copy number variations (CNVs), and gene fusions. By capturing and sequencing tumor-specific genomic regions, this panel allows for a comprehensive evaluation of the mutational landscape within the tumor genome.

Key Highlights of the Test

Key Highlights of the Test

-Comprehensive Gene Coverage: Minagene’s Somatic Mutation Panel covers a broad range of cancer-associated genes, including those commonly mutated in various cancer types. This extensive gene coverage ensures a comprehensive evaluation of somatic mutations, enabling physicians to gain a deeper understanding of the genetic alterations driving the patient’s cancer.

-High Sensitivity and Specificity: The Somatic Mutation Panel utilizes advanced sequencing technologies and bioinformatics algorithms to achieve high sensitivity and specificity in mutation detection. This ensures accurate and reliable identification of somatic mutations, even at low allele frequencies, providing physicians with precise genomic information for treatment decision-making.

-Actionable Mutation Insights: The panel not only detects somatic mutations but also provides actionable insights by linking the identified genetic alterations to relevant targeted therapies, immunotherapies, and clinical trials. This information empowers physicians to make informed treatment decisions and explore personalized therapeutic options for their patients.

-Tumor Heterogeneity Assessment: The Somatic Mutation Panel enables the assessment of tumor heterogeneity by identifying subclonal mutations within the tumor. This information is crucial for understanding the tumor’s evolutionary dynamics, predicting treatment response, and monitoring disease progression.

When to Consider This Test

-Diagnosis and Subtyping: The Somatic Mutation Panel can aid in the diagnosis and classification of various cancer types by identifying specific somatic mutations associated with particular malignancies. This information helps guide treatment decisions and determine the appropriate course of action.

-Treatment Selection: The panel assists in selecting optimal targeted therapies or immunotherapies based on the identified somatic mutations and their known associations with drug response. This allows for personalized treatment selection and potentially improves patient outcomes.

-Monitoring Treatment Response: The Somatic Mutation Panel can be used to monitor the evolution of somatic mutations during the course of treatment. Serial testing can help assess treatment response, detect emerging resistance mechanisms, and guide therapeutic adjustments for improved patient management.

-Prognostic Evaluation: By analyzing somatic mutations associated with prognosis, the panel provides valuable insights into the patient’s disease trajectory, aiding in prognostic evaluation and informing long-term care plans.