A relationship between genetic sequencing and prognosis for combined hepatocellular carcinoma and cholangiocarcinoma

Abstract Aim: Combined hepatocellular cholangiocarcinoma (CHCC-CCA) is one of a primary liver cancer. According to the epidemiological investigation, the incidence is the lowest among the three primary liver cancers. Due to the lack of current diagnostic and therapeutic approaches, we collected mutation genes and immunohistochemical results to search for markers of poor prognosis. Patients & methods: The genomic profiles of 10 intrahepatic cholangiocarcinoma (ICC) and 10 CHCC-CCA patients were reviewed and analyzed, including genomic change (GA), tumor mutation load, microsatellite instability, and pathological immunohistochemical results. Results: In CHCC-CCA, GA is the most common in TP53, TERT and LRP1B, while in ICC, GA is the most common in TP53, CYP2C19 and ATM. Mutations of TP53, CYP2C19 and ATM in ICC were associated with poor prognosis, while mutations of TP53, TERT and KIT in CHCC-CCA were associated with poor prognosis. Immunohistochemical results showed that high expressions of CK19, CK7, HSP70 and GS in ICC were correlated with poor prognosis, and high expressions of MEA, CK7 and HSP70 in CHCC-CCA were correlated with poor prognosis. Conclusion: These results suggest that genomic changes are associated with prognosis in CHCC-CCA and ICC. By using mutated genes and immunohistochemical results as markers of poor prognosis, the disease can be further studied and more effective treatments can be found.