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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.
Background:
Molecular characterisation of non-squamous non-small-cell lung cancer (NSCLC) is required to direct optimal treatment. Treatment of NSCLC with inhibitors of epidermal growth factor receptor (EGFR) tyrosine kinase (EGFR-TKI) should be guided by the presence of activating mutations of the EGFR gene.
Aim:
To gain insight into the rate of testing, the range of tissues samples, test utility and outcome when cost of testing as a barrier to access is removed in the Australian setting.
Methods:
In October 2010, a sponsored programme was commenced to gather data on EGFR gene mutation testing in Australia. Partnering laboratories were funded for provision of de-identified results. For participating patients, the programme supported the test charge. Mutation testing was performed using Sanger sequencing of exons 18-21 of the EGFR.
Results:
Samples 2013 were submitted from 2012 patients. Full sequencing was achieved in 1717 (85%). Failure of full sequencing was more likely in samples derived from fine needle aspiration(FNA) biopsy than tissue biopsy or pleural/pericardial fluid cell blocks OR 3.1 (95% CI 1.9-5.2). There were 359 mutations seen in 337 patients. 14.5% of cases had a classical mutation conferring sensitivity to EGFR-TKI. In addition there was a range of less common mutations - some predicting responses and others of uncertain significance. 1.4% of cases had mutations associated with non-responsiveness to EGFR-TKI.
Conclusions:
EGFR gene mutation testing is feasible on local and interstate lung cancer samples. The rate of valid test outcomes is high, but FNA samples are associated with more frequent test failure.
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.
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