Recent advances in molecular pathology and targeted therapies have opened a new era of personalized medicine for lung cancer treatment. Driver genetic alterations such as epidermal growth factor receptor (EGFR
) mutations, as well as Kirsten rat sarcoma viral oncogene homolog (KRAS
) and anaplastic lymphoma kinase (ALK
) rearrangements, have been identified and are currently used as predictive biomarkers for targeted therapies.1
Activating somatic mutations in the EGFR
gene are known to be major driver mutations in that they exhibit a high incidence in lung cancers and have played an important role in the development of targeted molecular therapies for lung cancer.2
EGFR tyrosine kinase inhibitors (TKIs), such as gefitinib and erlotinib, are associated with anti-tumor activity, inhibiting multiple downstream signaling processes that activate cell proliferation and other cell responses, including cell migration and angiogenesis.3
EGFR TKIs are approved in Korea as a first-line treatment for advanced non-small cell lung cancer (NSCLC) with mutated EGFR
(). In the Iressa Pan-Asia Study (IPASS) trial, tumors with mutated EGFR
exhibited a 71.2% clinical response to first-line gefitinib treatment, while only 1.1% of tumors with wild-type EGFR
responded to the treatment.4
Therefore, patient selection is critical for the clinical use of EGFR TKIs as a first-line treatment. Clinical characteristics such as female gender, never-smoker status, and Asian ethnicity were also found to be associated with the response to EGFR TKIs; however, the results of the IPASS study confirmed that molecular selection-based EGFR
mutation testing is the strongest predictive factor for EGFR TKI treatment response.4
Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are approved as a first-line treatment for advanced non-small cell lung cancer harboring EGFR mutation.
Thus, EGFR mutation testing is very important for lung cancer therapy. Likewise, rapid and accurate EGFR mutation testing is essential for proper patient selection when considering targeted therapy with EGFR TKIs. In addition, a standard set of guidelines suitable for the Korean medical community is necessary. In this article, we propose guideline recommendations for EGFR mutation testing that were discussed and approved by the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists ().
Recommendation summary for EGFR mutation testing