长期以来，腺癌组织学、雌性、不吸烟状态以及亚洲族群被认为是和非小细胞肺癌患者EGFR（表皮生长因子受体）突变相关的重要因子；近日，一项刊登在国际杂志Journal of Thoracic Oncology上的研究报告中，来自中国北京癌症研究所的研究人员通过研究表明，在亚洲人群中EGFR突变的频率相比之前报道的要高。
文章中，研究者表示，通过对亚洲7个区域大约1450位肺癌患者的研究发现，在IIIB和IV期病人机体中EGFR突变的频率为51.4%，而此前的报道大约为30%左右。
EGFR突变频率在女性中为61.1%，在从不吸烟的个体中为60.7%；而EGFR突变频率在男性中为44%，在偶然吸烟者机体中为51.6%；在亚洲区域中EGFR突变率最高的地区在越南，为64.2%，最低的区域在印度，为22.2%。
研究者Yuankai Shi博士表示，通过进行人口统计以及在临床亚群上对EGFR突变频率的研究揭示，EGFR突变的检测应当在处于IIIB和IV期的肺癌亚洲病人中进行，这对于帮助病人及时改善治疗策略以及确定其最佳的疗法非常关键。
原文链接：
A Prospective, Molecular Epidemiology Study of EGFR Mutations in Asian Patients with Advanced Non–Small-Cell Lung Cancer of Adenocarcinoma Histology (PIONEER)
Shi, Yuankai MD*; Au, Joseph Siu-Kie MD†; Thongprasert, Sumitra MD‡; Srinivasan, Sankar MBBS§; Tsai, Chun-Ming MD‖; Khoa, Mai Trong MD¶; Heeroma, Karin Dr Med Sc#; Itoh, Yohji PhD**; Cornelio, Gerardo MD††; Yang, Pan-Chyr MD‡‡
Introduction: PIONEER (NCT01185314) was a prospective, multinational, epidemiological study of epidermal growth factor receptor (EGFR) mutations in patients from Asia with newly diagnosed advanced lung adenocarcinoma. Methods: Eligible patients (aged ≥20 years) had untreated stage IIIB/IV adenocarcinoma. The EGFR mutation status (primary end point: positive, negative, or undetermined) of tumor samples (biopsy, surgical specimen, or cytology) was determined (Scorpion amplification refractory mutation system). EGFR mutation frequency was calculated and compared between demographic and clinical subgroups. Results: Of 1482 patients from seven Asian regions, 43.4% of patients were female, median age was 60 years (range, 17–94), and 52.6% of patients were never-smokers. EGFR mutation status was evaluable in tumors from 1450 patients (97.8%) (746 [51.4%] positive; 704 [48.6%] negative). Country, sex, ethnicity, smoking status, pack-years (all p < 0.001), disease stage (p = 0.009), and histology type (p = 0.016) correlated significantly with EGFR mutation frequency. Mutation frequency was 61.1% in females, 44.0% in males; lower in patients from India (22.2%) compared with other areas (47.2%–64.2%); highest among never-smokers (60.7%); and decreased as pack-year number increased (>0–10 pack-years, 57.9%; >50 pack-years, 31.4%) (similar trend by sex). Ethnic group (p < 0.001) and pack-years (p < 0.001) had statistically significant associations with mutation frequency (multivariate analysis); sex was not significant when adjusted for smoking status. Conclusion: PIONEER is the first prospective study to confirm high EGFR mutation frequency (51.4% overall) in tumors from Asian patients with adenocarcinoma. The observed high mutation frequency in demographic/clinical subgroups compared with white populations suggests that mutation testing should be considered for all patients with stage IIIB/IV adenocarcinoma, even males and regular smokers, among Asian populations.
