Abstract. Background: Chronic obstructive pulmonary disease is a smoking-related disease, and is categorized into the emphysema and airway dominant phenotypes. We examined the relationship between emphysematous changes and epidermal growth factor receptor (EGFR) mutation (Odds Ratio=3.47, p=0.005).
Conclusion: Our data showed a relationship between emphysematous changes and EGFR mutation status. There might be mutually exclusive genetic risk factors for carcinogenesis and development of emphysematous changes.Lung cancer is the leading cause of death in the United States and Japan (1, 2). The current prognosis for patients with advanced lung cancer is unsatisfactory even with chemoradiotherapy. Several molecular-targeted agents have been used in the clinical setting and have yielded improved prognoses for advanced lung cancer, especially in patients with somatic mutations in the kinase domain of the epidermal growth factor receptor (EGFR) gene by EGFRtyrosine kinase inhibitors (3, 4).EGFR mutation is frequently observed in patients who are East Asian, female, non-smokers, and diagnosed with adenocarcinoma (5, 6). Regarding smoking status, Pham et al. reported that smoking history may be a predictor of lowfrequency EGFR mutation (7). Jida et al. also reported that the cumulative smoking dose and frequency of EGFR mutation status are negatively correlated in Japanese patients with non-small-cell lung carcinoma (8). Therefore, EGFR mutation is regarded as an oncogenic driver mutation of lung cancer in non-smokers and light smokers (9, 10). The frequency of EGFR mutations in patients with lung cancer who are non-smokers or light smokers was reported to be 11-43.5% (8, 10-12). However, the reason for the low frequency in patients with lung cancer who smoke remains unclear.Chronic obstructive pulmonary disease (COPD) is characterized by persistent airflow limitation and chronic inflammatory reactions in the airways and lung in response to noxious particles or gases. Cigarette smoking is the major risk factor for the development and progression of COPD (13-15). Cigarette smoke contains toxic chemicals and causes inflammation in the lung. The characteristic chronic airflow limitation observed in COPD is caused by a mixture 765