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Updated: Aug 16, 2025
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Clinical and technical insights of tumour mutational burden in non-small cell lung cancer
Marina Meri-Abad1, Andrea Moreno-Manuel2, Sandra Gallach García2
1Medical Oncology Department, General University Hospital of Valencia, Valencia, Spain.
Abstract:
Despite the durable responses provided by the introduction of checkpoint inhibitors in advanced Non-Small Cell Lung Cancer (NSCLC) without actionable targets in a subset of patients, a large proportion of them will progress after immunotherapy. Programmed Death Ligand 1 (PD-L1) was the first biomarker approved for immunotherapy, although it has multiple limitations, thus the development of novel biomarkers is an urgent need. Tumour Mutational Burden (TMB) is an emerging biomarker defined as the total number of mutations per coding area of tumour genome. Targeted gene panels have emerged as a cost-effective approach to estimate TMB. However, there is still an unmet need to fully standardize sample requirements, panel size, and bioinformatic pipelines to ensure that TMB is calculated appropriately. In addition, researchers are also evaluating TMB calculation in liquid biopsy. In this work, we summarize the relevant advances and the clinical utility of TMB in NSCLC.
Insights
Tumor Mutational Burden (TMB) shows promise as a biomarker for Non-Small Cell Lung Cancer (NSCLC) immunotherapy, addressing limitations of PD-L1. Further standardization is needed for accurate TMB assessment.
Area of Science:
- Oncology
- Genomics
- Immunotherapy
Background:
- Checkpoint inhibitors offer durable responses in advanced Non-Small Cell Lung Cancer (NSCLC) lacking actionable targets.
- Many NSCLC patients progress after immunotherapy, highlighting limitations of current biomarkers like Programmed Death Ligand 1 (PD-L1).
- There is an urgent need for novel biomarkers to predict immunotherapy response in NSCLC.
Purpose of the Study:
- To summarize advances and clinical utility of Tumor Mutational Burden (TMB) as a biomarker in NSCLC.
- To discuss the role of targeted gene panels in estimating TMB.
- To highlight the need for standardization in TMB calculation and the exploration of liquid biopsy.
Main Methods:
- Review of relevant literature on Tumor Mutational Burden (TMB) in Non-Small Cell Lung Cancer (NSCLC).
- Discussion of targeted gene panels for TMB estimation.
- Exploration of TMB calculation in liquid biopsy samples.
Main Results:
- Tumor Mutational Burden (TMB) is an emerging biomarker representing the total number of mutations per coding area of the tumor genome.
- Targeted gene panels offer a cost-effective method for TMB estimation.
- Standardization of sample requirements, panel size, and bioinformatic pipelines is crucial for accurate TMB calculation.
Conclusions:
- Tumor Mutational Burden (TMB) holds significant potential as a predictive biomarker for immunotherapy in NSCLC.
- Further research and standardization are required to optimize TMB assessment, including its application in liquid biopsies.
- Addressing current limitations will enhance the clinical utility of TMB in guiding NSCLC treatment decisions.
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