摘要
表皮生長因子接受器 (Epithelial Growth Factor Receptor, EGFR) 突變是非小細胞肺癌病患常見的突變之一，檢測EGFR類型有助於標靶藥物的選擇，除此之外其突變類型在不同的族群中可看到不同的分佈，但這之間的關聯性在台灣地區尚未非常清楚。本研究收集自2013年11月到2016年10月期間共949筆檢驗EGFR基因突變的資料，檢測檢體類別包含石蠟包埋組織、細胞切片、胸肋膜液、腹水等。EGFR基因檢測使用therascreen EGFR RGQ PCR Kit version 2 (Qiagen) 試劑，接著將其結果與病患的臨床特徵以Chi-square test進行統計分析。949名病患臨床特徵分佈為男性481名，女性468名；年齡從29歲到94歲，中位數67歲；64.6%未抽菸、22.1%戒菸、13.3%持續抽菸；85.1%肺腺癌、10.2%非小細胞肺癌未指定組織型態、3.5%鱗狀細胞癌、0.9%混合二種組織型態、0.3%支氣管肺泡癌；臨床第I期10.6%、臨床第II期3.6%、臨床第III期11.1%、臨床第IV期74.7%。我們發現在受檢的非小細胞肺癌中60.3％的患者有EGFR突變，肺腺癌中有65.5%突變率。以EGFR突變率來看肺腺癌比鱗狀細胞癌高，未抽菸比戒菸和抽菸高，女性要比男性高，TNM-M1比TNM-M0高，年齡、TNM-T、TNM-N則與EGFR突變沒有差異。EGFR突變類型以Exon21 L858R(27.1%)及Exon19 deletion (26.1%) 佔大多數。EGFR-TKI抗藥性類型則以T790M(2.3%)最多。本研究透過大樣本數的分析以更加了解台灣地區EGFR突變分佈狀況，有提供臨床醫師作為治療參考的價值。
關鍵詞: 非小細胞肺癌、表皮生長因子接受器
Abstract
Epithelial Growth Factor Receptor (EGFR) mutations are common in non-small cell lung cancer (NSCLC). Detection of EGFR mutation status is mandatory for the selection of targeted therapeutics. Few if any previous studies have focused on the associations between EGFR mutation and clinicopathologic features in Southern Taiwan. We analyzed EGFR mutation patterns from 949 treatment-naïve patients tested in Chi Mei Medical Center from November 2013 to October 2016 in a retrospective manner. The mutation analyses were investigated by therascreen EGFR RGQ PCR Kit version 2 (Qiagen). The statistical analyses were performed by Chi-square test. The NSCLC patients consisted of 481 males and 468 females aged 29 to 94 (median 67). Among them, 64.6% were never smokers, 22.1% were ex-smokers and 13.3% were current smokers. There were 85.1% adenocarcinoma, 10.2% NSCLC (NOS), 3.5% SCC, 0.9% combined carcinoma and 0.3% bronchioloalveolar carcinoma which were diagnosed at stage I (10.6%), stage II (3.6%), stage III (11.1%), and stage IV (74.7%), respectively. Overall, 60.3% patients with NSCLC had EGFR mutations. 65.5% patients with Adenocarcinoma had EGFR mutations. Adenocarcinoma was mutated more often than SCC. Mutations were found more often in non-smokers than ex-smokers and current smokers. Mutation rate in females was higher than in males. More TNM-M1 was found than TNM-M0. No difference in age, TNM-T and TNM-N regarding mutation status was observed. Exon21 L858R (27.1%) and Exon19 deletion (26.1%) were the most common mutation types. T790M, the drug resistant mutation can be identified in 2.3% of patients. Throughout this analysis, we have clarified the molecular epidemiology of EGFR mutations in Southern Taiwan, suggesting that EGFR mutation further provides indication for clinical targeting therapy.
Keywords: Non-small Cell Lung Cancer, Epithelial Growth Factor Receptor, T790M