Biomarkers in Carcinoma of Unknown Primary, Sülen Sarıoğlu,Özgül Sağol,Anil Aysal, Editör, Springer, London/Berlin , Basel, ss.201-235, 2022
Hepatopancreatobiliary system carcinomas are problematic tumors in terms of both diagnosis and treatment options. Among the diagnostic biomarkers that can be used for the diagnosis of hepatocellular carcinoma, arginase-1 and hepatocyte-A immunohistochemistry and also albumin ISH stand out, while DNAJB1-PRKACA fusion is accepted as specific for the fibrolamellar subtype. FGFR2 fusions and IDH1/IDH2 mutations are considered as specific for intrahepatic cholangiocarcinomas (iCCA) among other pancreatobiliary system carcinomas and as the most promising targets for alternative treatment options. For pancreatic ductal adenocarcinomas, KRAS mutations, p53 mutations, p16 abnormalities, and SMAD4 loss are characteristics, although they are not useful for distinction from carcinomas of other primary sites. The most problematic issue for pancreatic neuroendocrine neoplasms is the distinction between grade 3 neuroendocrine tumor and neuroendocrine carcinoma in cases where morphological findings are insufficient. Immunohistochemical ATRX or DAXX loss is in favor of grade 3 neuroendocrine tumor, while p53 overexpression and Rb loss support the diagnosis of neuroendocrine carcinoma.
In this chapter, current and potential diagnostic, prognostic, and predictive biomarkers of hepatopancreatobiliary system carcinomas will be discussed in detail, to guide readers when they encounter these tumors in a metastatic area.