EGFR T790M ctDNA testing platforms and their role as companion diagnostics: Correlation with clinical outcomes to EGFR-TKIs
Related Experiment Video
Updated: Feb 27, 2026
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Zhiyong Liang1, Ying Cheng2, Yuan Chen3
1Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Abstract:
Somatic mutation in the epidermal growth factor receptor (EGFR) predict clinical response to EGFR tyrosine kinase inhibitors in non-small cell lung cancer (NSCLC) and is a promising target for personalised medicine. EGFR mutations have prognostic value. Initially patients respond well to tyrosine kinase inhibitors but finally they would develop resistance and about 50% of this resistance can be attributed to the emergence of EGFR resistant mutation, T790M. This necessitates the need for genetic testing for clinical management of patients. Molecular testing has become the standard of care in patients with NSCLCs based on the recommendations of standard guidelines. Though there are several platforms for EGFR mutation detection, highly sensitive platforms for clinical applicability as companion diagnostics for ctDNA based testing are emerging. Due to the dynamic changes in the T790M mutation during tyrosine kinase inhibitor (TKI) treatment, real-time monitoring of these genetic alterations is mandate for planning treatment strategies. With the advent of third generation TKIs that potentially target T790M, improvement in clinical outcome is documented in patients with NSCLCs. Managing these outcomes with appropriate companion diagnostics using ctDNA in early detection of these genetic alterations will improve patient care.
Insights
Genetic testing for epidermal growth factor receptor (EGFR) mutations, including T790M, is crucial for managing non-small cell lung cancer (NSCLC). Real-time monitoring of these mutations with ctDNA aids treatment strategies and improves patient outcomes.
Area of Science:
- Oncology
- Molecular Biology
- Personalized Medicine
Background:
- Somatic mutations in the epidermal growth factor receptor (EGFR) are key predictors of treatment response in non-small cell lung cancer (NSCLC).
- Initial response to EGFR tyrosine kinase inhibitors (TKIs) is often followed by acquired resistance, with the T790M mutation implicated in approximately 50% of cases.
- Genetic testing for EGFR mutations is now a standard of care in NSCLC management.
Purpose of the Study:
- To highlight the importance of genetic testing for EGFR mutations in NSCLC.
- To emphasize the role of T790M mutation in TKI resistance.
- To discuss the emerging role of ctDNA-based testing and real-time monitoring for personalized treatment strategies.
Main Methods:
- Review of current literature on EGFR mutations, TKI resistance, and molecular testing platforms.
- Discussion of the clinical implications of T790M mutation detection.
- Emphasis on the utility of circulating tumor DNA (ctDNA) for monitoring genetic alterations.
Main Results:
- EGFR mutations predict response to TKIs and have prognostic value in NSCLC.
- The T790M mutation is a major mechanism of acquired resistance to first- and second-generation TKIs.
- Third-generation TKIs targeting T790M have shown improved clinical outcomes.
Conclusions:
- Accurate and sensitive detection of EGFR mutations, including T790M, is essential for guiding NSCLC treatment.
- Emerging ctDNA-based companion diagnostics offer a minimally invasive approach for real-time monitoring of resistance mutations.
- Personalized treatment strategies incorporating molecular testing and monitoring are critical for improving patient care in NSCLC.
More Related Videos
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016