Abstract
BACKGROUND: Cholangiocarcinomas are relatively rare tumors most frequently arising from the epithelium of the hilar bile ducts. The diagnosis is often made in advanced (symptomatic) stages, which accounts for the infavorable prognosis with a 5-year survival of less than 10%. Identification of perihilar cholangiocarcinoma (pCCA) is often challenging because there is no single method offering sufficient diagnostic accuracy. SUMMARY: Most tumors arise in patients without specific risk factors. Clinical symptoms of pCCA are nonspecific and reliable biomarkers are lacking, with carbohydrate antigen 19-9 being the most commonly used tumor marker (but with a low accuracy). Cross-sectional imaging (CT and MRI) is used to identify and map hilar strictures and determine resectability by showing vascular involvement. Endoscopic ultrasound offers additional information on locoregional tumor spread and lymph node involvement. Endoscopic retrograde cholangiography in combination with cholangioscopy gives direct access to and imaging of hilar strictures but it does not always distinguish between pCCA and benign hilar strictures. Tissue acquisition for histological diagnosis is challenging, with frequent sampling errors regardless of the method of biopsy procurement because of the cellular paucity of tumor tissue. KEY MESSAGES: In suspected perihilar malignancy, a mosaic of clinical data has to be taken into account. Histological evaluation of (endoscopically harvested) specimens is pivotal to differential diagnosis. Several new techniques to increase diagnostic accuracy are under investigation (biomarkers and genetic testing among others).