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Can Methylated DNA Markers Outperform Cytology in the Diagnosis of Malignant Biliary Stricture?

By: Kayci Reyer
Posted: Tuesday, December 6, 2022

Research presented at the 2022 American Association for the Study of Liver Diseases (AASLD) Annual Meeting (Abstract 200) suggests that methylated DNA markers may be valuable diagnostic and prognostic tools in malignant biliary strictures. Methylated DNA markers were found to be more sensitive than cytology in detecting the disease. However, the investigators noted, further prospective cohort screening studies are needed to validate their findings.

“Malignant biliary strictures, including cholangiocarcinoma and pancreatic adenocarcinoma, are frequently asymptomatic in early stages, resulting in delayed diagnosis and poor survival,” noted Vinay Chandrasekhara, MD, of the Mayo Clinic, Rochester, Minnesota, and colleagues.

The study included 468 biliary brushes collected from 264 patients. Cholangiocarcinoma with (n = 22) or without (n = 34) primary sclerosing cholangitis, pancreatic adenocarcinoma, and nonmalignant disease with (n = 80) or without (n = 104) primary sclerosing cholangitis were represented. A total of three methylated DNA markers—TWIST1, HOXA1, and VSTM2B—were selected for evaluation.

Each of the three were highly specific for malignancy (95%), with respective sensitivities of 60%, 54%, and 62%. When used collectively as a panel, the markers combined for a sensitivity of 63% and a specificity of 95%. Routine cytology performed in the same patients resulted in a sensitivity of 20% and a specificity of 100%. Of the 51 patients who received an outcome other than malignancy from routine cytology, 28 had positive methylated DNA markers.

Disclosure: For full disclosures of the study authors, visit

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