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A Comparative Review of Methods for Detecting Epidermal Growth Factor Receptor Mutations in Cell-free DNA from Lung
Sepideh Shohani1, Mahmood Barati1, Arshad Hosseini1
1Department of Medical Biotechnology, School of Allied Medical Sciences, Iran University of Medical Sciences, Tehran, Iran.
Background:
Lung cancer remains the leading cause of cancer-related mortality. Determining the T790M resistance variants and epidermal growth factor receptor (EGFR) mutations is crucial for personalized treatment, especially when using targeted therapies.
Objective:
This review article aims to comprehensively compare some of the various diagnostic techniques associated with liquid biopsies, such as cell-free DNA (cfDNA) for T790M and EGFR mutant identification. It also aims to evaluate their pertinence in clinical settings, as well as their sensitivity and specificity to determine how effectively they monitor treatment response and resistance.
Methods:
A literature search was conducted using databases including PubMed, Scopus, and Web of Science. The keyword list included "EGFR mutations," "T790M resistance," "liquid biopsy," "COLD PCR," "NGS," "ddPCR," "BEAMing," and other methods. The effect of these studies on diagnostic technologies for identifying EGFR mutations was assessed in terms of clinical practice, methodological accuracy, and significance. Sensitivity, specificity, clinical applicability, cost analysis, turnaround times, and ease of integration into clinical workflows were used as parameters for evaluation based on the literature.
Results:
There are advantages and disadvantages to cfDNA monitoring strategies for treatment response and resistance, as well as to the assessment of sensitivity, specificity, and clinical applicability for identifying EGFR mutations.
Conclusion:
Advanced techniques such as COLD-PCR, LC-MS, qPCR, NGS sequencing, Sanger sequencing, PNA microarrays, the Allele-Specific Competitive Extension (ASCE) real-time PCR assay, and nanopore technology are necessary for personalized lung cancer management. However, depending on the objective of the work, the suitable method should be selected based on its benefits and drawbacks.
Insights
Liquid biopsies using cell-free DNA (cfDNA) offer crucial insights into epidermal growth factor receptor (EGFR) mutations and T790M resistance variants for personalized lung cancer treatment. Various diagnostic techniques show distinct advantages and disadvantages for clinical application.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Lung cancer is a leading cause of cancer mortality globally.
- Identifying epidermal growth factor receptor (EGFR) mutations and T790M resistance variants is critical for effective targeted therapy.
- Personalized treatment strategies rely on accurate detection of these genetic markers.
Purpose of the Study:
- To compare diagnostic techniques for liquid biopsies, focusing on cell-free DNA (cfDNA) for T790M and EGFR mutant detection.
- To evaluate the clinical relevance, sensitivity, and specificity of these methods.
- To assess their utility in monitoring treatment response and resistance.
Main Methods:
- A comprehensive literature search was performed across PubMed, Scopus, and Web of Science.
- Keywords included "EGFR mutations," "T790M resistance," "liquid biopsy," "NGS," and "ddPCR."
- Diagnostic technologies were evaluated based on clinical practice, accuracy, sensitivity, specificity, cost, and turnaround time.
Main Results:
- Cell-free DNA (cfDNA) monitoring strategies present both benefits and limitations for tracking treatment response and resistance.
- The sensitivity, specificity, and clinical applicability vary among different methods for identifying EGFR mutations.
- Each technique has unique advantages and disadvantages impacting its suitability for clinical use.
Conclusions:
- Advanced techniques including COLD-PCR, NGS, ddPCR, and others are essential for personalized lung cancer management.
- The selection of a diagnostic method should be based on specific objectives, weighing its benefits and drawbacks.
- Tailoring the choice of technique ensures optimal patient management and treatment efficacy.
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