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澳門非小細胞肺癌EGFR基因突變研究
A study on EGFR gene mutation in non-small cell lung carcinoma in Macao
摘要
目的：檢測澳門非小細胞肺癌（NSCLC）表皮生長因子受體（EGFR）基因變異狀態，探討EGFR突變與臨床病理特征的關係。方法：收集NSCLC127例。肺癌組織DNA採用石蠟組織試劑盒抽提，EGFR突變採用蠍形探針擴增阻滯系統PCR檢測。分析EGFR突變與患者年齡、性別、吸煙史、淋巴結轉移、腫瘤分級、臨床分期的關係。結果：127例NSCLC中，EGFR突變53例（41.7%），其中1例18外顯子、27例19外顯子、4例20外顯子、20例21外顯子，1例同時出現18和20外顯子突變。女性患者EGFR突變率明顯高於男性，非吸煙者突變率明顯高於吸煙者，腺癌EGFR突變率為44.5%，其他類型均無突變。TTF-1陽性病例突變率明顯高於陰性病例。EGFR突變率在不同年齡組、組織學分級、臨床分期、有否淋巴結轉移的差異無統計學意義。結論：澳門非小細胞肺癌EGFR突變主要發生在女性、非吸煙、腺癌患者及TTF-1陽性病例。胸水癌細胞EGFR突變檢測有利於晚期肺癌患者獲得靶向治療機會。
並列摘要
Objective: To explore the status of epidermal growth factor receptor (EGFR) gene mutation in non small cell lung carcinoma (NSCLC) in Macau, and to study the relationship between EGFR gene mutation and clinicopathological features. Methods: One hundred and twenty seven cases of NSCLC specimen were collected. The DNA in paraffin-embedded tissue was extracted by DNA FFPE tissue kit. The status of EGFR gene mutation was detected by ARMS Scorpions PCR system. Patients' clinical data, including age, sex, smoking history, lymph node metastasis, histological grade and clinical stages were collected for studying their relationship with EGFR mutation. Results: EGFR gene mutations were detected in 53 of 127 (41.7%), including 1 in exon 18, 27 in exon 19, 4 in exon 20 and 20 in exon 21. One case carried two kinds of mutations in exon 18 and 20. The mutation rates were significantly higher in women than in men, in non-smoker than in smoker and in thyroid transcription factor (TTF-1) positive cases than negative cases. The mutations were detected in 44.5% adenocarcinoma, none in other histological types. There was no statistical significance between mutation rates and age groups, histological grades, clinical stages, and lymph node involvement. Conclusion: Our result indicates that EGFR gene mutation mainly occurs in female, non-smoker, TTF-1 positive adenocarcinoma patients in Macau. EGFR mutation detection can benefit the advanced lung cancer patients through the application of targeted therapy.