| 中文摘要 |
肝內膽管癌(Intrahepatic cholangiocarcinoma, iCCA)占所有膽管癌(Cholan-giocarcinoma, CCA)約 35% [1],且發生率有逐年上升的趨勢。由於目前尚無理想的生物標定物 (biomarker) 來進行診斷、預後評估和選擇治療藥物的參考,導致預後不甚理想,三年死亡率高達 80%。在遺傳變異和環境因素的相互作用之下,導致複雜的致癌機制,因此增加標靶治療發展的困難度。
除了已知的 TP53, KRAS, BRAF, EGFR, PI3CA, PTEN 突變,利用次世代定序(next-generation sequencing, NGS) 技術發現肝內膽管癌其他獨特的基因變異,包括體細胞突變、拷貝數變異、基因融合...等現象。藉由基因層面上的進一步瞭解,將有助於在臨床上的診斷和治療發展。 |
| 英文摘要 |
The molecular markers and carcinogenesis of cholangiocarcinoma (CCA) have not been thoroughly investigated. Survival rate remains relatively poor for these patients. Intrahepatic cholangiocarcinoma (iCCA) is a relatively uncommon tumor, representing 35% of all cholangiocarcinoma. Further understanding of the genomic aspect of iCCA with biomarker-driven clinical trials that match thera-pies to targets are urgently needed.
Pan-cancer oncogene mutations, including TP53, KRAS, BRAF, EGFR,PI3CA, PTEN, have also been identified in iCCA. Advances in sequencing tech-nologies such as next-generation sequencing (NGS) has extended our understand-ing of genetic heterogeneity in iCCA. Results from NGS technology might help identify genetic variation for targeted therapeutics. This article discusses how the recent achievements in cancer genomics may advance diagnosis and therapy that ultimately improve patient outcome. |
