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Radiogenomics of Intrahepatic Cholangiocarcinoma: Correlation of Imaging Features With BAP1 and FGFR Molecular
Veronica Cox1, Milind Javle2, Jia Sun3
1From the Department of Abdominal Imaging.
Purpose:
Clinical research has shown unique tumor behavioral characteristics of BRCA -associated protein-1- ( BAP1 -) and fibroblast growth factor receptor ( FGFR )-mutated intrahepatic cholangiocarcinomas (CCAs), with BAP1 -mutated tumors demonstrating more aggressive forms of disease and FGFR -altered CCAs showing more indolent behavior. We performed a retrospective case-control study to evaluate for unique imaging features associated with BAP1 and FGFR genomic markers in intrahepatic CCA (iCCA).
Methods:
Multiple imaging features of iCCA at first staging were analyzed by 2 abdominal radiologists blinded to genomic data. Growth and development of metastases at available follow-up imaging were also recorded, as were basic clinical cohort data. Types of iCCA analyzed included those with BAP1 , FGFR , or both alterations, as well as cases with low mutational burden or mutations with low clinical impact, which served as a control or "wild-type" group. There were 18 cases in the FGFR group, 10 with BAP1 mutations, and 31 wild types (controls).
Results:
Cases with BAP1 mutations showed significantly larger growth at first year of follow-up ( P = 0.03) and more frequent tumor-associated biliary ductal dilatation ( P = 0.04) compared with controls. FGFR -altered cases showed more infiltrative margins compared with controls ( P = 0.047) and demonstrated less enhancement between arterial to portal venous phases ( P = 0.02). BAP1 and FGFR groups had more cases with stage IV disease at presentation than controls ( P = 0.025, P = 0.006).
Conclusion:
Compared with wild-type iCCAs, FGFR -mutated tumors often demonstrate infiltrative margins, and BAP1 tumors show increased biliary ductal dilatation at presentation. BAP1 -mutated cases had significantly larger growth at first-year restaging.
