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Updated: Jan 2, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
[Importance of tumour mutation burden testing]
1Dr. Senckenbergisches Institut für Pathologie, Universitätsklinikum Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Deutschland. peter.wild@kgu.de.
Abstract:
Although therapy with immune checkpoint inhibitors (ICIs) for patients with non-small-cell lung carcinoma (NSCLC), which has recently become available, does offer a survival advantage compared with chemotherapy, the overall response rate is only around 20 %. Biomarkers are increasingly important in identifying patients who would benefit from ICI therapy. Expression of PD-L1 was the first predictive biomarker to be developed, but was unable to sufficiently predict the efficacy of ICI. Another biomarker, tumour mutation burden (TMB), is defined as the number of mutations per megabase of DNA analysed. Microsatellite instability also acts as a predictive marker for ICI therapy response. Many tumour entities demonstrate a high correlation between MSI and high TMB. Studies show a benefit of progression-free survival for patients with NSCLC and a TMB of at least 10 mutations per megabase.
Insights
Immune checkpoint inhibitors (ICIs) show promise for non-small-cell lung carcinoma (NSCLC), but response rates are low. Tumor mutation burden (TMB) is a key biomarker, with high TMB potentially improving progression-free survival in NSCLC patients.
Area of Science:
- Oncology
- Immunotherapy
- Genomics
Background:
- Immune checkpoint inhibitors (ICIs) offer survival benefits for non-small-cell lung carcinoma (NSCLC) patients over chemotherapy.
- However, the overall response rate to ICIs in NSCLC remains limited at approximately 20%.
Purpose of the Study:
- To highlight the importance of predictive biomarkers for identifying patients likely to benefit from ICI therapy.
- To discuss tumor mutation burden (TMB) as a promising biomarker for ICI efficacy in NSCLC.
Main Methods:
- Review of current literature on biomarkers for ICI therapy in NSCLC.
- Analysis of the role of PD-L1 expression, tumor mutation burden (TMB), and microsatellite instability (MSI) as predictive markers.
- Examination of studies correlating MSI and TMB, and TMB thresholds for improved outcomes.
Main Results:
- PD-L1 expression has shown limitations in predicting ICI efficacy.
- Tumor mutation burden (TMB), defined as mutations per megabase, and microsatellite instability (MSI) are emerging predictive biomarkers.
- A TMB of at least 10 mutations per megabase is associated with improved progression-free survival in NSCLC patients.
Conclusions:
- Biomarkers are crucial for optimizing ICI therapy selection in NSCLC.
- High TMB is a significant predictive factor for improved treatment outcomes in NSCLC patients receiving ICIs.
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