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Updated: May 9, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Multicenter observational study to characterize fibroblast growth factor receptor 2 fusions or rearrangements in
Tomoyuki Satake1, Chigusa Morizane2, Hiroyuki Isayama3
1Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital East, Chiba, Japan.
Aim:
We conducted this observational study to investigate patterns of fibroblast growth factor receptor 2 (FGFR2) fusions or rearrangements, and how they relate to other characteristics of patients with unresectable advanced cholangiocarcinoma.
Methods:
Patients aged 20 years or older with intrahepatic cholangiocarcinoma (ICC) or perihilar cholangiocarcinoma (PHC) had tumor samples assessed for FGFR2 fusions or rearrangements by a break-apart fluorescence in situ hybridization probe kit analyzed at a central laboratory; multivariate analyses using a logistic regression model were conducted to investigate the relationship between FGFR2 fusions or rearrangements and patients' baseline characteristics; two cut-off values (p-values of 0.15 and 0.05) were used.
Results:
Of the 453 patients observed, 25 (5.5%) had FGFR2 fusions or rearrangements, corresponding with 7.4% (23/306) of patients with ICC and 1.4% (2/144) of patients with PHC. Of 426 evaluable patients, FGFR2 fusions or rearrangements were associated with hepatitis C antibodies (odds ratio [OR] 6.901; p < 0.05); patients who had PHC versus ICC (OR 0.273; p < 0.05) or were men (OR 0.431; p < 0.15) were less likely to have FGFR2 fusions or rearrangements. Of 252 evaluable patients with ICC, FGFR2 fusions or rearrangements were associated with hepatitis C antibodies (OR 9.500; p < 0.05); patients who were men (OR 0.419; p < 0.05) or were aged ≥65 years (OR 0.406; p < 0.15) were less likely to have FGFR2 fusions or rearrangements.
Conclusions:
This large observational study helps to characterize factors associated with FGFR2 fusions or rearrangements. Further study is warranted to explore differences in prevalence among different geographic populations and patients with PHC.

