Department of Gastroenterology and Hepatology, Faculty of Life Sciences, Kumamoto University, Kumamoto University, 1-1-1, Honjo, Chuo-Ku, Kumamoto, 860-8556, Japan.
Cancer Genome Center, Kumamoto University Hospital, Kumamoto, Japan.
Int J Clin Oncol. 2024 Dec;29(12):1908-1915. doi: 10.1007/s10147-024-02616-x. Epub 2024 Sep 19.
Biliary tract cancer (BTC) comprises a heterogeneous group of malignancies with poor prognosis because of the limited treatment options. With the recent advances of next generation sequencing technologies, comprehensive genomic profiling (CGP) tests have been widely introduced into daily clinical practice.
We performed a retrospective, multicenter, observation cohort study. The genomic and clinical data of 85 BTC patients, who underwent CGP testing from August 2021 to September 2023, were analyzed.
There were 62 (73%) cases in which treatment recommendations were raised during expert meetings, including 34 intrahepatic cholangiocarcinoma (ICC), 20 extrahepatic cholangiocarcinoma (ECC) and 8 gall bladder carcinoma (GBC). The drug accessibility rate of the BTC patients was 15.3% (13 cases): ten ICCs, two ECCs, and one GBC. Five ICC patients (three male and two female) with the FGFR2 fusion gene were treated with pemigatinib. Those patients who received a genomically matched therapy had significantly longer median overall survival than those patients who not received. (n = 13; not reached [95% CI not reached-not reached] vs n = 72; 8.6 months [95% CI 6.6-10.0]; hazard ratio 0.24 [95% CI 0.12-0.49], p = 0.013). The median observation period of pemigatinib treatment was 15.4 months (range 10.1-27.4). The responses were classified as PR in three patients, SD in one patient and PD in one patient. The median progression free survival is 9.0 months. No patient had grade 3/4 AEs requiring discontinuation of the treatment.
The drug accessibility rate of ICC is high and pemigatinib is effective and well-tolerated in ICC patients harboring FGFR2 gene fusions.
胆管癌（BTC）由一组预后较差的恶性肿瘤组成，由于治疗选择有限。随着下一代测序技术的最新进展，全面基因组分析（CGP）测试已广泛应用于临床实践。
我们进行了一项回顾性、多中心、观察性队列研究。分析了 85 名于 2021 年 8 月至 2023 年 9 月接受 CGP 检测的 BTC 患者的基因组和临床数据。
在专家会议上提出了 62 例（73%）治疗建议，包括 34 例肝内胆管癌（ICC）、20 例肝外胆管癌（ECC）和 8 例胆囊癌（GBC）。BTC 患者的药物可及性率为 15.3%（13 例）：10 例 ICC、2 例 ECC 和 1 例 GBC。5 例携带 FGFR2 融合基因的 ICC 患者接受了培米替尼治疗。接受基因匹配治疗的患者中位总生存期明显长于未接受治疗的患者（n=13；未达到[95%CI 未达到-未达到]与 n=72；8.6 个月[95%CI 6.6-10.0]；风险比 0.24[95%CI 0.12-0.49]，p=0.013）。培米替尼治疗的中位观察期为 15.4 个月（范围 10.1-27.4）。反应分类为 3 例 PR、1 例 SD 和 1 例 PD。中位无进展生存期为 9.0 个月。无患者因 3/4 级 AE 而需要停止治疗。
ICC 的药物可及性率较高，携带 FGFR2 基因融合的 ICC 患者使用培米替尼治疗有效且耐受性良好。
