Diagnostic Dilemma: Is there any bile duct dysplasia or cancer in this patient with primary sclerosing cholangitis? (BT01-02)

Patient History:

A middle aged man is diagnosed with primary sclerosing cholangitis, with multiple strictures (narrowings) of the extrahepatic and intrahepatic biliary ducts. One stricture is suspected to be malignant by endoscopic examination; the corresponding cytopathology brush test interpretation for this stricture is indeterminate.

Original Diagnosis:

Benign duct epithelium is present. Cannot exclude the presence of dysplasia or malignancy. (Indeterminant)

RedPath Diagnosis:

Biliary epithelium manifests one allelic imbalance mutation of 17q. This low number of mutations indicates that early, low grade, biliary dysplasia is present and excludes the presence of bile-duct cancer or related high-grade dysplasia.

Generic sample of PathFinderTG® quantitative test results. NOTE: A diagnostic interpretation of the quantitative test results is provided by the RedPath Pathologist.
Click here for test result explanation

Clinical Impact:

Primary Sclerosing Cholangitis (PSC) is a biliary inflammatory disease with increased risk to develop dysplasia and, if left untreated, may progress to cancer. Accurate assessment of the level of dysplasia present in biliary duct strictures is crucial for deciding whether the patient undergoes a liver transplant or continued surveillance. As seen here, the preliminary clinical and cytopathology impressions for the presence of dysplasia or malignancy are often inadequate (and sometimes in disagreement) for making this crucial patient care decision. In this case, the RedPath PathFinderTG diagnosis guided the clinician’s decision to offer this patient long-term surveillance for a benign lesion, rather than a liver transplant to address the endoscopic examination impression of malignancy.