Fully automated real-time PCR for EGFR testing in non-small cell lung carcinoma

Richard Colling,Hollie Bancroft,Gerald Langman,Elizabeth Soilleux

doi:10.1007/s00428-018-2486-y

Abstract

Molecular testing for mutations in the EGFR gene is commonplace for patients with non-small cell lung cancer (NSCLC). These patients are often very sick and management decisions need to be made urgently. In many cases, the results of molecular testing are needed the same day, in order to start targeted therapy and allow maximum benefit for patients. The Idylla™ EGFR Mutation Test offers rapid results within three hours of requesting. This study aimed to assess the concordance of Idylla™ EGFR Mutation Test results with current standard tests. Forty formalin-fixed, paraffin-embedded NSCLC tumour cases (20 EGFR mutant and EGFR 20 wild type) were analysed by the Idylla™ EGFR Mutation Test (CE-IVD) and compared with PCR and NGS methodologies. The overall concordance between Idylla™ and standard testing was 92.5% (95% CI 80.14% to 97.42%) and the specificity of Idylla™ was 100% (95% CI 83.89% to 100%). The sensitivity was affected by loss of tumour content in tissue blocks in a small number of NGS cases; however, comparing Idylla™ with PCR alone, there was 100% concordance (95% CI 89.85% to 100%). The Idylla™ EGFR Mutation Test shows comparative accuracy to routine PCR testing for the most common EGFR mutations in NSCLC. The Idylla™ also offers significantly reduced turn-around times compared with existing modalities and therefore the platform would be a useful addition to many molecular diagnostics units.

Highlights

Lung cancer is the third most common cancer in the UK with around 46,000 cases diagnosed each year
Around 16% of Non-small cell lung carcinoma (NSCLC) patients have somatic mutations in the epidermal growth factor receptor (EGFR) gene and these patients show a greater response to EGFR-tyrosine kinase inhibitors (EGFR-TKi), such as gefitinib, than they do to traditional chemotherapies
This study evaluated the new CE-IVD approved IdyllaTM EGFR Mutation Test with the main aim to verify the previous validations of the RUO test in a small cohort of patients who have undergone routine polymerase chain reaction (PCR) testing

Summary

Introduction

Lung cancer is the third most common cancer in the UK with around 46,000 cases diagnosed each year. The prognosis for these patients is extremely poor with the overall 10-year survival at only 5% [1]. Around 16% of NSCLC patients have somatic mutations in the epidermal growth factor receptor (EGFR) gene and these patients show a greater response to EGFR-tyrosine kinase inhibitors (EGFR-TKi), such as gefitinib, than they do to traditional chemotherapies. Patients without such mutations respond better to conventional drugs.

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