Abstract

Activating mutations of epidermal growth factor receptor (EGFR) could predict response to tyrosine kinase inhibitor (TKI) treatment in patients with non-small cell lung cancer (NSCLC). However, the detection of EGFR mutation is frequently challenging in clinical practice for the lack of tumor tissue. The aim of this study was to investigate the feasibility of performing EGFR mutation testing on various types of liquid-based cytology (LBC) samples. A total of 434 liquid-based cytology samples were collected from March 2010 and November 2013. Among them, 101 with diagnosis of lung adenocarcinoma had paired surgically resected specimens. The ADx Amplification Refractory Mutation System (ADx-ARMS) was used to determine EGFR mutation status both in LBC and resected samples. All liquid-based cytology samples were adequate for EGFR mutation analysis. The mutation rate was 50.5% in the 434 NSCLC patients with LBC samples and the incidence rates of EGFR mutation were consistent among different specimens. We also detected EGFR positives in 52.5% (53/101) patients with paired histologic specimens. The concordance rate of EGFR mutation between LBC samples and paired histologic specimens was 92.1%. Our results suggest that liquid-based cytology samples are highly reliable for EGFR mutation testing in patients with NSCLC.

Highlights

  • Activating mutations in epidermal growth factor receptor (EGFR) gene confer dramatic sensitivity to EGFR tyrosine kinase inhibitor (TKI) (Rich et al, 2004)

  • Our results suggest that liquid-based cytology samples are highly reliable for EGFR mutation testing in patients with non-small cell lung cancer (NSCLC)

  • Cytology samples such as computed tomogram guided fine-needle aspiration cytology (FNA), bronchofiberscopic brushing (BB) or bronchoalveolar lavage (BL), Endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA), Pleural effusion (PE) and Sputum are the main source to get the diagnosis of NSCLC

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Summary

Introduction

Activating mutations in epidermal growth factor receptor (EGFR) gene confer dramatic sensitivity to EGFR TKIs (Rich et al, 2004). Cytology samples such as computed tomogram guided fine-needle aspiration cytology (FNA), bronchofiberscopic brushing (BB) or bronchoalveolar lavage (BL), Endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA), Pleural effusion (PE) and Sputum are the main source to get the diagnosis of NSCLC. These cytological samples were preserved in CytoLyt solution to make into liquid-based cytological (LBC) slides. Activating mutations of epidermal growth factor receptor (EGFR) could predict response to tyrosine kinase inhibitor (TKI) treatment in patients with non-small cell lung cancer (NSCLC).

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