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Updated: Oct 22, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma
Lucas W Thornblade1, Paul Wong1, Daneng Li2
1Department of Surgery, City of Hope National Medical Center, Duarte, CA 91010, USA.
Background:
With minimally effective chemotherapy options, cholangiocarcinoma patients have 5 year survival rate of 10%. Tumor genetic profiling (TGP) can identify mutations susceptible to targeted therapies. We sought to describe the use of TGP and frequency of actionable results in resected cholangiocarcinoma.
Methods:
A retrospective review of patients undergoing curative intent resection at a comprehensive cancer center (2010-2020). Clinicopathologic and partial or whole exome sequencing data were reviewed.
Results:
114 patients (mean age 65 ± 11 years, 45% female) underwent resection of cholangiocarcinoma (46% poorly differentiated, 54% intrahepatic, 36% node positive, 75% margin negative). Additionally, 32% of patients underwent TGP, yielding a mean of 3.1 actionable mutations per patient (range 0-14). Mutations aligned with a median of one drug per patient (range 0-11). Common mutations included TP53 (33%), KRAS (31%), IDH1/2 (14%), FGFR (14%), and BRAF (8%). Targeted therapies were administered in only 4% of patients (23% of eligible sequenced patients). After a median 22 months, 23% had recurrence and 29% were deceased.
Discussion:
TGP for cholangiocarcinoma has increased over the last decade with targeted therapies identified in most sequenced tumors, impacting treatment in a quarter of eligible patients. Precision medicine will play a central role in the future care of cholangiocarcinoma.
