Primary Sclerosing Cholangitis (PSC)

Welcome to the online home of the Chris M. Carlos and Catherine Nicole Jockisch Carlos Endowment for Primary Sclerosing Cholangitis (PSC). Thanks to support provided by this endowment, dedicated Mayo Clinic investigators and their teams are making strides to better understand and treat PSC patients, with the ultimate goal of developing a cure for this disease.

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Genomic Profiling of Cholangiocarcinoma among PSC Patients

By Ethan McConkey, Moderator, @ethanmcconkey

2019-02-06 Lab DNA

In a recent study, published in the journal Hepatology, Goeppert B. et al., reported genomic features of cholangiocarcinoma (i.e., bile duct cancer) in patients with primary sclerosing cholangitis (PSC). In this excellent international effort from 11 medical centers in eight countries, the authors carried out DNA sequencing of 42 genes on cholangiocarcinoma tissue derived from patients with PSC. They noted a high frequency of mutations in genes known to be involved in the pathogenesis of extra-hepatic cholangiocarcinoma. These genes could represent options of targeted therapies for cholangiocarcinoma. Of interest, more than half of these tumors displayed a distinct histomorphological subtype.

Read the paper from Dr. Goeppert

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