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Epidermal Growth Factor Receptor T790M Mutation Testing in Non-Small Cell Lung Cancer: An International Collaborative
Martin Filipits1, Verena Kainz2, Viktor Sebek3
1Center for Cancer Research, Medical University of Vienna, 1090 Vienna, Austria.
Background:
The detection of the EGFR T790M (T790M) mutation in non-small cell lung cancer (NSCLC) patients who progressed under treatment with first- or second-generation EGFR-tyrosine kinase inhibitors (TKIs) is important to offer a subsequent therapy with a third-generation EGFR-TKI. Liquid biopsy is a powerful tool to determine the T790M mutation status. Several liquid biopsy platforms with varying degrees of accuracy are available to test for T790M mutations, and sensitivities may differ among these methods.
Methods:
As no standard exists for the testing of T790M mutation in liquid biopsy, we performed a collaborative study to describe and compare the sensitivity of different in-house liquid biopsy platforms for the detection of the T790M mutation, EGFR exon 19 deletion (del19) and EGFR L858R mutation (L858R) across multiple participating laboratories in seven Central and Eastern European countries.
Results:
Of the 25 invited laboratories across Central and Eastern Europe, 21 centers participated and received 10 plasma samples spiked with cell-line DNA containing the T790M, del19, or L858R mutation in different concentrations. In-house PCR-based and NGS-based methods were used accordingly, and results were reported as in routine clinical practice. Two laboratories, which used the AmoyDx® EGFR 29 Mutations Detection Kit (AmoyDx) with Cobas® cfDNA Sample Preparation Kit and QX200 Droplet Digital PCR (ddPCR) with the QIAamp Circulating Nucleic Acid Kit identified all ten samples correctly. Cobas® EGFR Mutation Test v2 (Cobas), the NGS methods, and the IdyllaTM detection method used in this study performed within the known sensitivity range of each detection method.
Conclusions:
If a negative result was obtained from methods with lower sensitivity (e.g., Cobas), repeated liquid biopsy testing and/or tissue biopsy analysis should be performed whenever possible, to identify T790M-positive patients to allow them to receive the optimal second-line treatment with a third-generation EGFR TKI.
Insights
Accurate detection of the EGFR T790M mutation in non-small cell lung cancer (NSCLC) is crucial for guiding treatment. This study compared liquid biopsy platforms, finding specific kits highly sensitive for T790M, del19, and L858R mutations.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Accurate detection of the EGFR T790M mutation in non-small cell lung cancer (NSCLC) is critical for patients progressing on first- or second-generation EGFR-tyrosine kinase inhibitors (TKIs).
- Liquid biopsy offers a non-invasive method for T790M mutation testing, but sensitivity varies across available platforms.
- Standardized methods for liquid biopsy T790M testing are lacking, necessitating comparative studies.
Purpose of the Study:
- To compare the sensitivity of various in-house liquid biopsy platforms for detecting EGFR T790M, del19, and L858R mutations.
- To evaluate the performance of different platforms in a multi-laboratory setting across Central and Eastern Europe.
- To provide insights into the reliability of liquid biopsy for guiding subsequent NSCLC treatment.
Main Methods:
- A collaborative study involving 21 laboratories across seven Central and Eastern European countries.
- Plasma samples were spiked with cell-line DNA containing T790M, del19, or L858R mutations at varying concentrations.
- Participating laboratories utilized their in-house PCR-based and NGS-based methods for mutation detection, reporting results as per routine clinical practice.
Main Results:
- Two specific kits, AmoyDx EGFR 29 Mutations Detection Kit with Cobas cfDNA Sample Preparation Kit and QX200 Droplet Digital PCR with QIAamp Circulating Nucleic Acid Kit, correctly identified all ten spiked samples.
- Other tested methods, including Cobas EGFR Mutation Test v2, NGS, and Idylla detection, performed within their known sensitivity ranges.
- The study demonstrated variability in performance among different in-house liquid biopsy platforms.
Conclusions:
- High-sensitivity methods are crucial for accurate T790M mutation detection in liquid biopsies.
- If a liquid biopsy yields a negative result with a lower-sensitivity method, confirmatory testing via repeated liquid biopsy or tissue biopsy is recommended.
- Accurate T790M status determination is essential for optimizing second-line treatment with third-generation EGFR TKIs in NSCLC patients.
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