Targeted genomic profiling revealed a unique clinical phenotype in intrahepatic cholangiocarcinoma with fibroblast growth factor receptor rearrangement

• Main Authors: Zhongzheng Zhu, Hui Dong, Jianguo Wu, Wei Dong, Xianling Guo, Hua Yu, Juemin Fang, Song Gao, Xuejun Chen, Huangbin Lu, Wenming Cong, Qing Xu
• Format: Article
• Language: English
• Published: Elsevier 2021-10-01
• Series: Translational Oncology
• Subjects: Intrahepatic cholangiocarcinoma; Fibroblast growth factor receptor; Gene rearrangement; Genomic aberration; Target therapy
• Online Access: http://www.sciencedirect.com/science/article/pii/S1936523321001601

Genomic aberrations (GAs) in fibroblast growth factor receptors (FGFRs) are involved in the pathogenesis of intrahepatic cholangiocarcinoma (ICC), and clinical trials have shown efficacy of FGFR inhibitors in treating ICC patients with FGFR GAs such as FGFR2 rearrangement. To clarify the FGFRs GA profile and corresponding clinicopathological features in Chinese patients with ICC, a total of 257 cases were identified. Fourteen cases (5.45%) were positive for FGFR2 rearrangement. Further analysis on the 110 FGFR2 rearrangement negative cases showed that 13 patients present additional FGFRs GAs, including FGFR3 rearrangement (2.73%), and FGFRs mutations. When compared with patients without FGFRs GAs, those with FGFR2 or FGFR3 rearrangement presented more under the age of 58 years, female sex, HBsAb positivity, CD10 expression, and PD-L1 expression. The clinical characteristics between patients with FGFRs mutation and those without FGFRs GAs were similar, with the exception that cases with FGFRs mutation have more hepatolithiasis. We concluded that FGFR rearrangement is associated with unique clinical phenotypes in ICC.