The clinical characteristics of intrahepatic cholangiocarcinoma with actionable gene variants detected by cancer genomic profiling tests

Abstract

The aims of cancer genomic profiling (CGP) tests are to obtain genetic information and provide optimal pharmacotherapy by comprehensively analyzing genes. Especially, FGFR2 fusions and IDH1 mutations are frequently observed in intrahepatic cholangiocarcinoma (ICC). A retrospective study of 24 ICC cases with CGP at our institution showed 78.6% of small duct carcinoma (SDC) cases had actionable gene variants, while 10 large duct carcinoma (LDC) cases didn't. Contrast-enhanced CT showed vascular invasion inside the tumors in 92.9% of the SDC cases, but not in the LDC cases, thus enabling the diagnosis of SDC-type ICC from the CT. However, the drug delivery rates aren't high at 21.4% cases. Early submission of CGP results and rapid introduction of therapeutic agents, including clinical trials, were necessary to improve the drug delivery rates.