肺癌關鍵突變基因之意義及檢測

Diagnosis and Implications of Driver Genes Mutation in Lung Cancer

標靶治療可以幫助肺癌病患延長存活期及改進生活品質，而精準的投藥則仰賴關鍵突變基因的檢測，提供用藥參考。關鍵突變基因是引發癌細胞的關鍵因素，找出癌細胞所具有的關鍵突變基因後給與特定標靶藥物是目前治療的原則。然而並非所有癌細胞都存在已知的關鍵突變基因，因此，如何快速檢測關鍵突變基因及找出新的突變成為重要的議題。隨著分子檢測技術軟硬體的發展，許多高輸出量與高敏感度平台，如：突變擴充即時定量聚合酶鏈鎖反應、核酸質譜儀、新一代定序儀等，無論在找尋新穎性關鍵突變基因或是高敏感度檢測都是重要利器，但如何選用最適當平台，兼顧病患數、檢體類、耗時與成本且充分了解每個平台的優缺點是需要研究人員與臨床醫師共同商討，以提供肺癌病患優化的治療。

In non-small cell lung cancer, multiple genetic alternations have already been identified as therapeutic targets. "Driver gene mutation" is a specific genetic alteration which provided growth advantages that is responsible for cancer phenotype. The identification of these oncogenic driver genes followed by specific targeted therapies has produced superior clinical outcomes in tumors with these mutations. However, not all cancer cells harbor known mutations. There are two important issues in the mutation detection. One is the short turnaround time for molecular testing. The other is identified rare genomic changes and used the information to select treatments and facilitate trials. Beyond the direct sequencing, the development of new molecular testing with high throughput and sensitivity including mutant enrich real-time QPCR, nucleotide mass spectrometry and next generation sequencing are powerful in driver gene mutation exploration and identification. How to choose the best platform for the detection of driver gene mutation is dependent on specimen types, turnaround time, cost as well as the sensitivity and specificity of each method.