Molecular diagnosis of intrahepatic cholangiocarcinoma

Hiroaki Haga, Tushar Patel

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Intrahepatic cholangiocarcinomas (iCCA) are primary intrahepatic malignancies originating from biliary epithelia. While both hepatocellular cancer and iCCA can present as mass lesions within the liver, these cancers are distinct in their morphology, etiology, pathology, natural history and response to therapy. There is a need for accurate and sensitive molecular markers for the diagnosis of iCCA. Recent advances in elucidating molecular and genetic characteristics of iCCA offer the potential of molecular-based diagnosis of iCCA. Specific genetic mutations of IDH1/2, BAP1, p53, and KRAS, FGFR gene fusions and alterations in microRNA have all been described in iCCA. Although there are no accurate serum or biliary biomarkers currently available for diagnosis of iCCA, several potential candidates have been identified. Knowledge of specific genetic or molecular abnormalities offers potential for individualized approaches for the treatment of patients with iCCA in the future.

Original languageEnglish (US)
Pages (from-to)114-123
Number of pages10
JournalJournal of Hepato-Biliary-Pancreatic Sciences
Issue number2
StatePublished - Feb 1 2015


  • Biliary cancers
  • Biomarkers
  • Gene fusions
  • Gene mutations
  • Liver cancers

ASJC Scopus subject areas

  • Surgery
  • Hepatology


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