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Abstract
To investigate the clinical validity and utility of tests for detecting Epidermal Growth Factor Receptor (EGFR) gene mutations in non-squamous non-small cell lung cancer patients, tumour DNA extracts from 532 patients previously tested by the cobas EGFR Mutation Test (RT-PCR test) were retested by the Sequenom/Agena Biosciences MassArray OncoFocus mass spectrometry test (MS test). Valid results from both tests were available from 470 patients (88%) for agreement analysis. Survival data were obtained for 513 patients (96%) and 77 patients (14%) were treated with EGFR tyrosine kinase inhibitors (TKIs). Agreement analysis revealed moderately high positive (79.8%), negative (96.9%) and overall percentage agreement (93.2%) for the detection of EGFR mutations. However, EGFR mutations were detected by one test and not by the other test in 32 patients (7%). Retesting of discordant samples revealed false-positive and false-negative results generated by both tests. Despite this, treatment and survival outcomes correlated with the results of the RT-PCR and MS tests. In conclusion, this study provides evidence of the clinical validity and utility of the RT-PCR and MS tests for detection of EGFR mutations that predict prognosis and benefit from EGFR-TKI treatment. However, their false-positive and false-negative test results may have important clinical consequences.
Highlights
Epidermal Growth Factor Receptor (EGFR) gene mutation testing is a critical first step in the personalised treatment of patients with non-squamous non-small cell lung cancer (NSCLC)
In the same New Zealand population-based study mentioned above [1], we showed that the introduction of EGFR gene mutation testing was associated with improved quality of prescribing of EGFR-tyrosine kinase inhibitors (TKIs), and with improved health outcomes, including prolongation of overall survival and increased duration of benefit from EGFR-TKI treatment
Tumour DNA extracts from a large and unselected group of lung cancer patients (n=532) previously tested by the RT-Polymerase Chain Reaction (PCR) test were retested by the mass spectrometry test (MS test)
Summary
Epidermal Growth Factor Receptor (EGFR) gene mutation testing is a critical first step in the personalised treatment of patients with non-squamous non-small cell lung cancer (NSCLC). Significant numbers of non-squamous NSCLC patients can be expected to test positive for EGFR gene mutations, the exact proportion varies widely between different ethnic groups and geographical regions. In a population-based registry www.impactjournals.com/oncotarget cohort of non-squamous NSCLC patients presenting in northern New Zealand, we had previously shown that EGFR gene mutations were detected in 109 of 500 tested patients (22%) [1]. In the same New Zealand population-based study mentioned above [1], we showed that the introduction of EGFR gene mutation testing was associated with improved quality of prescribing of EGFR-TKIs, and with improved health outcomes, including prolongation of overall survival and increased duration of benefit from EGFR-TKI treatment. Surveys of real-world testing practices have revealed wide variation with the use of many different testing methodologies for EGFR gene mutation detection in the routine setting [12, 13]
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