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Updated: Jan 21, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
Tumor mutation burden: from comprehensive mutational screening to the clinic
Francesca Galuppini1, Carlo Alberto Dal Pozzo1, Jutta Deckert2
11Department of Medicine, Surgical Pathology Unit, University of Padua, Via Aristide Gabelli, 61, 35121 Padua, Italy.
Tumor Mutational Burden (TMB) shows promise as a predictive biomarker for immunotherapy response in carcinomas. While next-generation sequencing facilitates TMB analysis, cost and expertise hinder its routine diagnostic use.
Area of Science:
- Oncology
- Immunotherapy
- Molecular Pathology
Background:
- Immunomodulatory therapies require predictive biomarkers for patient selection and clinical trial design.
- Current biomarkers for gastrointestinal and pulmonary carcinomas include PD-L1 expression and microsatellite status.
- Tumor Mutational Burden (TMB) is an emerging biomarker for immunotherapy response.
Purpose of the Study:
- To review the clinical application of TMB analysis in immune checkpoint inhibitor therapies.
- To discuss TMB as a predictive biomarker for immunotherapy.
Main Methods:
- Focus on next-generation sequencing (NGS) technologies for TMB assessment.
- Review of current clinical practices and challenges in TMB evaluation.
Main Results:
- TMB is a promising biomarker for patient selection in immunotherapy.
- NGS implementation has enabled TMB evaluation.
- Cost and expertise limit routine TMB diagnostics.
Conclusions:
- TMB analysis holds significant potential for tailoring immunotherapy.
- Further integration of TMB into routine diagnostics is needed.
- Addressing cost and expertise barriers is crucial for TMB's clinical utility.
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