Real-World Analysis of the EGFR Mutation Test in Tissue and Plasma Samples from Non-Small Cell Lung Cancer.

Hyunwoo Lee,Joungho Han,Yoon-La Choi

doi:10.3390/diagnostics11091695

Hyunwoo Lee, Joungho Han + Show 1 more

Open Access

https://doi.org/10.3390/diagnostics11091695

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Abstract

Molecular evaluation of EGFR mutation is indispensable in treating non-small cell lung cancer (NSCLC). We compared the results of EGFR analysis using tissue DNA (tDNA) and circulating tumor (ctDNA) to evaluate the feasibility of plasma as an effective material for detecting EGFR mutation and the reliability of ctDNA analysis in real-world practice settings. We enrolled 554 NSCLC cases who had undergone ctDNA EGFR analysis between January 2019 and March 2020. EGFR mutations were detected in 240 (57.3%) of the 421 cases with EGFR mutations confirmed by tDNA analysis. In multivariate analysis, the size of the largest tumor deposits, disease progression, M stage, the detectable amount of tumor tissue with EGFR mutation in distant metastasis, liver metastasis, pleural seeding, and bone metastasis (p < 0.05) were identified as independent factors affecting the detection rate of EGFR mutations in ctDNA. Survival analysis revealed ctDNA status and M stage (p < 0.001) to be independent predictors of overall survival in the multivariate analysis. Our study demonstrates that EGFR analysis using ctDNA is a useful clinical tool and can aid in therapeutic decisions in real-world practical settings. However, clinicians should be aware of the possibility of false negatives and confirm EGFR analysis using tDNA in certain situations.

Highlights

Tyrosine kinase inhibitors (TKIs) are one of the most revolutionary classes of therapeutic compounds in medical history
The circulating tumor DNA (ctDNA) Epidermal growth factor receptor (EGFR) analysis was performed after 26.3 months, with the average from a diagnosis of non-small cell cancer (NSCLC)
We compared ctDNA analysis and tissue DNA (tDNA) analysis for the detection of the EGFR mutation required for the targeted therapy of NSCLC, and the sensitivity of ctDNA analysis was 57.3%, which was slightly lower than that reported in previous studies [18,19,23,25]

Summary

Introduction

Tyrosine kinase inhibitors (TKIs) are one of the most revolutionary classes of therapeutic compounds in medical history. Epidermal growth factor receptor (EGFR) inhibitors are a highly effective treatment [1] for lung cancer, one of the leading causes of death worldwide [2]. The prevalence of EGFR mutation in non-small cell cancer (NSCLC) of Asian patients is about 40~65% [3,4], which is much higher than other regions [5]. Tumor genotyping, including EGFR mutation testing, is a important step in predicting sensitivity to targeted therapies in many patients diagnosed with NSCLC, especially in Asia. Acquired resistance cannot be avoided even in patients with excellent therapeutic effect following initial TKI treatment [6,7]. Genotyping of tumors, including EGFR analysis, can be limited by the need for tumor tissue samples that are collected via biopsy, which is often contra-indicated in patients with advanced disease

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