EGFR Mutation Analysis by real-time PCR

The epidermal growth factor receptor (EGFR) is a tyrosine kinase receptor that has been found to play an important role in cancer, particularly in non-small cell lung carcinoma as well as in colorectal adenocarcinomas. Responsiveness to anti- EGFR therapies such as gefitinib in lung cancer has been linked to the presence of specific mutations in the tyrosine kinase domain of EGFR (1, 3).

The EGFR mutation test now offered at PhenoPath Laboratories uses real-time PCR for rapid assessment of DNA extracted from paraffin- embedded tissues for the most commonly found EGFR mutations which involve exons 18 through 21 of the EGFR gene. This assay has been validated against sequenced clinical samples and is the same assay used to establish patient eligibility and efficacy in many recent clinical trials, including the IressaTM Pan-Asia Study or IPASS (3).

The PhenoPath EGFR assay, produced by DxS-Diagnostic Innovations/Qiagen, is identical to that selected by AstraZeneca and Boehringer Mannheim to serve as the companion diagnostic kit for their respective anti-EGFR therapies. EGFR mutations occur in approximately 10-20% of lung non- small cell carcinoma (2). The EGFR mutation test offered at PhenoPath Laboratories is a rapid, sensitive, and accurate test that identifies patients who would be more likely to respond to selective anti-EGFR therapies such as gefitinib. In conjunction with EGFR FISH analysis, this real-time PCR-based EGFR mutation test allows for the most up-to-date and complete assessment of EGFR status, to help identify patients eligible for anti-EGFR therapy.

1. Lynch et al., Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to Gefitinib. NEJM 2004; 350:2129-39
2. John et al., Overview of molecular testing in non-small-cell lung cancer: mutational analysis, gene copy number, protein expression and other biomarkers of EGFR for the prediction of response to tyrosine kinase inhibitors. Oncogene 2009; 28:S14-S23
3. Mok et al., Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. NEJM 2009; 361:947-57

If you or your clinicians have any questions regarding PhenoPath Laboratories' EGFR mutation analysis, contact us at 206-374-9000, or by email at lab@phenopath.com.