Outcomes of an Australian testing programme for epidermal growth factor receptor mutations in non-small cell lung

M J Peters1, J J Bowden, P Carpenter

  • 1Concord Repatriation General Hospital, Sydney, New South Wales, Australia.

Abstract

Insights

EGFR gene mutation testing in Australia is feasible and effective for non-small cell lung cancer (NSCLC) patients. High rates of successful testing were observed, guiding optimal treatment decisions.

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Molecular characterization of non-squamous non-small-cell lung cancer (NSCLC) is crucial for personalized treatment strategies.
  • Treatment with epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKI) in NSCLC necessitates identification of specific EGFR gene mutations.
  • Understanding the accessibility and utility of EGFR mutation testing is vital for optimizing patient care.

Purpose of the Study:

  • To evaluate the rate and outcomes of EGFR gene mutation testing in Australia.
  • To assess the impact of removing cost as a barrier to EGFR testing.
  • To analyze the types of tissue samples used and their effect on test success.

Main Methods:

  • A sponsored program collected de-identified EGFR mutation testing data from Australian laboratories.
  • The program covered the cost of testing for participating patients.
  • EGFR mutations were identified using Sanger sequencing of exons 18-21.

Main Results:

  • Over 2000 samples were analyzed, with a high success rate (85%) for full sequencing.
  • Activating EGFR mutations, conferring sensitivity to EGFR-TKI, were found in 14.5% of cases.
  • Fine needle aspiration (FNA) biopsies showed a higher failure rate for sequencing compared to tissue biopsies.

Conclusions:

  • EGFR gene mutation testing is a feasible and valuable diagnostic tool for NSCLC patients in Australia.
  • The study demonstrates a high rate of successful EGFR mutation detection, supporting its clinical utility.
  • While effective, FNA samples present challenges for EGFR mutation testing success.