Nakaoka Kazunori, Ohno Eizaburo, Yamada Seiji, Kuzuya Teiji, Sudo Tamotsu, Ueno Sayaka, Tanaka Hiroyuki, Sasaki Yutaka, Miyahara Ryoji, Hashimoto Senju, Hirooka Yoshiki
Department of Gastroenterology, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Division of Analytical PathologyOncology Invitation Center, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
Int J Clin Oncol. 2025 May 5. doi: 10.1007/s10147-025-02767-5.
Cancer gene panel testing (CGP) helps comprehensively analyze a large number of genes, extracting genetic information from the genome profile to aid treatment plans and drug therapy. Advances in drug therapy and surgical treatment for intrahepatic cholangiocarcinoma (ICC) have improved patient outcomes; however, it remains a typical intractable cancer with a poor prognosis. ICC is one of the key tumors for which effective treatment may be identified through CGP testing. This study aimed to identify ICC harboring actionable genetic variants using contrast-enhanced ultrasonography (CE-US).
We enrolled 26 ICC patients who underwent CE-US before chemotherapy or surgery. Three ultrasound specialists reviewed the images by consensus and assessed the imaging features, including vascularity. Pathological data were reviewed after diagnosis using CE-US. We retrospectively analyzed distinctive CE-US findings in patients with ICC with actionable genetic variants.
Twelve ICC patients had actionable gene variants, including four FGFR2 fusions, one FGFR2 rearrangement, six IDH1 mutations, and one BRAF V600E mutation. Univariate analysis showed significant differences in bile duct invasion (p = 0.0217) and blood vessel penetration within the tumor (p = 0.0012). Multivariable logistic regression identified blood vessel penetration within the tumor (OR = 18.275; 95% CI: 1.331-250.925; p = 0.0297) as independently associated with actionable gene variants.
Patients with ICC and blood vessel penetration on CE-US should be considered for CGP testing.
癌症基因panel检测（CGP）有助于全面分析大量基因，从基因组图谱中提取遗传信息以辅助治疗方案和药物治疗。肝内胆管癌（ICC）的药物治疗和手术治疗进展改善了患者预后；然而，它仍然是一种典型的难治性癌症，预后较差。ICC是可通过CGP检测确定有效治疗方法的关键肿瘤之一。本研究旨在使用对比增强超声（CE-US）识别携带可操作基因变异的ICC。
我们纳入了26例在化疗或手术前接受CE-US检查的ICC患者。三名超声专家通过共识审查图像并评估成像特征，包括血管情况。使用CE-US诊断后回顾病理数据。我们回顾性分析了具有可操作基因变异的ICC患者独特的CE-US表现。
12例ICC患者存在可操作基因变异，包括4例FGFR2融合、1例FGFR2重排、6例IDH1突变和1例BRAF V600E突变。单因素分析显示胆管侵犯（p = 0.0217）和肿瘤内血管穿入（p = 0.0012）存在显著差异。多变量逻辑回归确定肿瘤内血管穿入（OR = 18.275；95%CI：1.331 - 250.925；p = 0.0297）与可操作基因变异独立相关。
对于CE-US显示有血管穿入的ICC患者，应考虑进行CGP检测。
