肺腺癌EGFR及ALK基因突變之概論

10.6666/ClinMed.202105_87(5).0046

黃煦晴；邱昭華

表皮生長因子（epidermal growth factor receptor, EGFR） ； 異生性淋巴瘤激酶（anaplastic lymphoma kinase, ALK） ； 標靶治療（targeted therapy） ； 肺腺癌（lung adenocarcinoma）

臨床醫學月刊

87卷5期（2021 / 05 / 28）

283 - 286

繁體中文

肺腺癌的病患中，表皮生長因子（epidermal growth factor receptor, EGFR）是第一個被發現的driver mutation。EGFR突變在歐美人種約佔10～15%，但在東亞人種可高達50%以上。最常見的是外顯子21（exon 21）的點突變L858R，以及外顯子19之氨基酸佚失（deletion），此兩種突變都對酪氨酸激酶抑制劑（tyroisine kinase inhibitor, TKI）敏感性極高。以EGFR TKI藥物治療具突變的肺腺癌病人，約有9成的病人腫瘤會得到控制，然而抗藥性的問題依然存在。一、二代EGFR TKI藥物平均大約10-14個月會產生抗藥性，其中約有一半病患會產生第二種EGFR的突變－T790M，此種突變可以第三代的藥物治療。肺腺癌異生性淋巴瘤激酶（anaplastic lymphoma kinase, ALK）為一種轉位突變（translocation）。在肺腺癌的比例不分種族大約4%。ALK TKI的治療效果極佳，在臨床試驗中，此群病人的中位存活期甚至可達4年以上。因此，在治療第四期肺癌病人時，取得適當的檢體並盡可能地檢測出可能用藥的基因，讓病人接受「最適當」的治療，無疑是臨床醫師重要的課題和責任。

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