Abstract

Purpose: Currently, formalin-fixed paraffin-embedded (FFPE) tissue specimens are the conventional material for gene testing for non-small cell lung cancer (NSCLC) patients. In our study, we aimed to develop a quick gene testing procedure using fresh core needle biopsy samples from NSCLC patients. Methods: In total, 77 fresh NSCLC samples obtained from core needle biopsy were evaluated by frozen section examination. If the NSCLC diagnosis and adequate tumor cell counts were confirmed by histopathology, the fresh tissues were used to extract DNA and subsequent gene testing by ARMS-PCR. Meanwhile, the paired FFPE core needle biopsy samples from 30 NSCLC patients also underwent gene testing. Results: In total, 77 fresh samples showed an EGFR mutation rate of 61.0%, higher than the levels in the Asian. Following a comparison of gene testing results with fresh tissues and paired FFPE tissues from the 30 patients, no significant difference in the DNA concentration extracted from fresh tissues and FFPE tissues was found. However, DNA purity was significantly higher in fresh tissues than that in FFPE tissues. Gene testing detected the same gene mutations in 93.3% of cases in fresh tissues and paired FFPE tissues. The gene testing procedure using fresh biopsy samples greatly shortens the waiting time of patients. Conclusion: The multi-gene mutation testing using fresh core needle biopsy samples from NSCLC patients is a reasonable, achievable, and quick approach. Fresh tissues may serve as a potential alternative to FFPE tissues for gene testing in NSCLC patients.

Highlights

  • Patients with non-small cell lung cancer (NSCLC) often harbor driver mutations in multiple oncogenes, including EGFR, RAS, ALK, ROS1, BRAF, HER2, RET, etc., [1]

  • Following a comparison of gene testing results with fresh tissues and paired formalinfixed paraffin-embedded (FFPE) tissues from the 30 patients, no significant difference in the DNA concentration extracted from fresh tissues and FFPE tissues was found

  • Fresh tissues may serve as a potential alternative to FFPE tissues for gene testing in NSCLC patients

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Summary

Introduction

Patients with non-small cell lung cancer (NSCLC) often harbor driver mutations in multiple oncogenes, including EGFR, RAS, ALK, ROS1, BRAF, HER2, RET, etc., [1]. Gene mutation testing for lung cancer is important for identification of potentially efficacious targeted therapies. When it comes to patients with advanced NSCLC (stage III and IV), they have lost the opportunity of surgical therapy. Formalinfixed paraffin-embedded (FFPE) tissue specimens are a conventional and valuable source of sample material for mutation analysis. Lai et al performed EGFR mutation analysis using surgically resected fresh specimens [3]. These screening procedures using fresh materials have proven to be achievable and cost-effective

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