Genetic analysis in the clinical management of biliary tract cancer

Annals of Gastroenterological Surgery

Toshifumi Wakai¹  Pankaj Prasoon¹  Jun Sakata¹  Yoshifumi Shimada¹  Masayuki Nagahashi¹ 

[1] Division of Digestive and General Surgery Niigata University Graduate School of Medical and Dental Sciences Niigata Japan;

关键词: biliary tract cancer;    cholangiocarcinoma;    genetic analysis;    genome medicine;    surgical oncology;   

DOI  :  10.1002/ags3.12334

来源: DOAJ

【 摘 要 】

Abstract Biliary tract cancer (BTC) is clinically and pathologically heterogeneous and responds inadequately to treatment. A small section of patients develop resectable disease, although the relapse rates are high; the benefits of adjuvant capecitabine chemotherapy for BTC are now understood, and gemcitabine‐based combination chemotherapy is the first line of therapeutic strategy for BTC; however, alternative therapy for BTC is not known. Genomic profiling can provide detailed information regarding the carcinogenesis, identification, and therapy for BTC. Currently, confirmed restorative targets for BTC are lacking. In this review, we aimed to analyze the preclinical and clinical implications of a spectrum of genomic alterations associated with new potentially remedial targets. We focused on eight draggable genes for BTC, which were described as having evidence of therapeutic impact (evidence level 2A‐3B) based on the clinical practice guidance for next‐generation sequencing in cancer diagnosis and treatment; these include ERBB2, NTRK1, RNF43, CDK6, CDKN2B, FGFR2, IDH1, and IDH2. Moreover, some of the BTC present microsatellite instability, hypermutation, and germline variants, which we also reviewed. Finally, we discussed the therapeutic options based on the next‐generation sequencing findings in BTC. Studies have demonstrated that BTC includes subgroups with individually distinct driver mutations, most of which will be targeted with new treatment plans.

【 授权许可】

Unknown