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Updated: Mar 13, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
A Rapid and Sensitive Method for Detection of the T790M Mutation of EGFR in Plasma DNA
Hideharu Kimura1, Shingo Nishikawa2, Hayato Koba2
1Respiratory Medicine, Kanazawa University Hospital, Takara-machi 13-1, Kanazawa, 920-8641, Japan. hkimura3625@staff.kanazawa-u.ac.jp.
Abstract:
Epidermal growth factor receptor (EGFR) T790M mutation is associated with resistance to EGFR tyrosine kinase inhibitors' (EGFR-TKIs) in non-small cell lung cancer (NSCLC). The aims of this study are to develop a blood-based, non-invasive approach to detecting the EGFR T790M mutation in advanced NSCLC patients, using PointMan™ EGFR DNA Enrichment Kit which is a novel method for selective amplification of genotype specific sequences.Pairs of blood samples and tumor tissues were collected from NSCLC patients with an EGFR activating mutation and who were resistant to EGFR-TKI treatment. EGFR T790M mutation in plasma DNA were detected using the PointMan™ EGFR DNA Enrichment Kit. The concentrations of plasma DNA were determined using quantitative real-time PCR.Of the 52 patients enrolled in this study, 41 of the patients' plasma samples were collected at post EGFR-TKIs. Nineteen (46.3 %) of the 41 patients had an EGFR T790M mutation in their plasma DNA as detected using the PointMan™ EGFR DNA Enrichment Kit after disease progression to EFGR-TKI. Of 11 cases with a detected T790M mutation from tumor tissues, 10 (90.9 %) also had a detectable T790M mutation in the plasma DNA. There was no difference in the progression-free survival between patients with T790M and those without T790M.The PointMan™ proved to be a useful method for determining plasma EGFR T790M mutation status.
Insights
A novel blood test using the PointMan™ EGFR DNA Enrichment Kit effectively detects the T790M mutation in non-small cell lung cancer (NSCLC) patients resistant to EGFR tyrosine kinase inhibitors (EGFR-TKIs). This non-invasive method aids in monitoring treatment resistance.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The T790M mutation in Epidermal Growth Factor Receptor (EGFR) confers resistance to EGFR tyrosine kinase inhibitors (EGFR-TKIs) in non-small cell lung cancer (NSCLC).
- Accurate detection of this mutation is crucial for guiding subsequent treatment strategies.
Purpose of the Study:
- To develop and evaluate a non-invasive, blood-based method for detecting the EGFR T790M mutation in advanced NSCLC patients.
- To assess the utility of the PointMan™ EGFR DNA Enrichment Kit for this purpose.
Main Methods:
- Blood and tumor tissue samples were collected from NSCLC patients with EGFR mutations resistant to EGFR-TKIs.
- The PointMan™ EGFR DNA Enrichment Kit was used to detect EGFR T790M mutations in plasma DNA.
- Quantitative real-time PCR was employed to determine plasma DNA concentrations.
Main Results:
- The PointMan™ kit detected the EGFR T790M mutation in plasma DNA in 46.3% (19/41) of patients post-EGFR-TKI progression.
- In cases with detectable T790M in tumor tissue (11 cases), 90.9% (10/11) also showed the mutation in plasma.
- No significant difference in progression-free survival was observed between patients with and without the T790M mutation.
Conclusions:
- The PointMan™ EGFR DNA Enrichment Kit is a valuable tool for non-invasively determining EGFR T790M mutation status in plasma DNA.
- This blood-based approach can aid in monitoring treatment resistance in NSCLC patients.
