| 摘要: | 背景：肺癌是癌症所導致死亡中的第一位，其中非小細胞肺癌約佔 85%。非小細胞肺癌的治療方式包含手術、放射線治療、全身治療(化療、標靶治 療、免疫治療)， 目前已發現多種驅動突變如 EGFR 突變、ALK 重組、ROS 1 重組、MET 基因異常等，可作為標靶藥物的標的，篩選驅動突變已成為 非小細胞肺癌診斷中重要的一環。方法：本研究利用 PharmGKB 的「藥物仿單注釋(Drug Label Annotation)」 頁面，查詢美國、歐洲、加拿大及日本各國仿單檢測生物標記的標示情形， 並比較台灣仿單所標示的情形。針對台灣建議檢測的生物標記，以搜尋文 獻的方式找出該生物標記於不同族群基因突變之頻率，以探討適合台灣的 基因檢測策略。 結果：標靶藥物及免疫藥物的藥品仿單大部分有提供必要檢測的生物標記 訊息，而台灣的藥品仿單所提供的訊息與各國仿單資訊大致相同。在基因 頻率的部分，EGFR 突變頻率在台灣/東方國家明顯高於西方國家，而 ALK 重組、ROS 重組、NTRK 基因融合、BRAF 突變、MET 基因異常及 PD-L1 表現量的部分，台灣的突變頻率與西方國家的突變頻率相近。結論：台灣的 EGFR 突變頻率明顯高於西方國家，也較 ALK、ROS1 及 BRAF 等驅動突變來的高，相較於初期使用 NGS 檢測所有驅動突變，對於 EGFR 突變高的台灣來說，初期先進行 EGFR 的排他性檢測或許是較合適的策略。
Background: Lung cancer is the leading cause of cancer-related deaths. The treatment of non-small cell lung cancer include surgery, radiation therapy, systemic therapy (chemotherapy, targeted therapy, immunotherapy). The most useful biomarkers for predicting the efficacy of targeted therapy in NSCLC are “driver mutations”, such as EGFR mutation, ALK rearrangements, ROS-1 rearrangements, MET gene abnormality. Screening for driver mutations has become an important part of the diagnosis of non-small cell lung cancer. Methods: In this study, the "Drug Label Annotation" page of PharmGKB was used to inquire about the labeling status of biomarkers in the United States, Europe, Canada and Japan. For the biomarkers suggested to be detected in Taiwan, the frequency of gene mutation was found by searching the literature. To explore a suitable genetic testing strategy for Taiwan. Results: In group of target drugs and immunodrugs, most biomarkers were “Testing regiured” in drug lable. The information provided by drug label in Taiwan was almost the same as that of other countries. In the part of gene frequency, the frequency of EGFR mutation in Taiwan is significantly higher than that in Western countries. The mutation frequency of ALK, ROS1, NTRK, BRAF, MET and PD-L1 expression in Taiwan is similar to that in Western countries. Conclusion: The frequency of EGFR mutation in Taiwan is significantly higher than that in Western countries, and it is also higher than that of driver mutations such as ALK, ROS1, and BRAF. Compared with the initial use of NGS to detect all driver mutations, for Taiwan with high EGFR mutations, exclusionary testing of the EGFR mutation may be a more appropriate strategy. |
