Validation of a methylated DNA marker panel for the nonendoscopic detection of Barrett’s esophagus in a multisite case-control study

Post written by Prasad G. Iyer, MD, MSc, from the Division of Gastroenterology & Hepatology, Mayo Clinic, Rochester, Minnesota, USA.


This article summarizes the third step in the development and validation of a nonendoscopic, minimally invasive molecular test to detect a precursor to esophageal adenocarcinoma: Barrett’s esophagus. Esophageal adenocarcinoma is a rare but lethal malignancy with rapidly rising incidence. When detected early its outcomes are substantially better, and it can be prevented by the endoscopic treatment of its precursor lesion: Barrett’s esophagus with dysplasia.

This study is the next step in the development of a molecular test for BE detection. In our previous 2 papers, we discovered and pilot tested methylated DNA markers and narrowed down the panel of MDMs to 5. In this study we trained a slightly modified panel of MDMs on a training set and then tested its performance in an independent test set. We also streamlined the DNA extraction of samples and the testing algorithm.

A 5 MDM panel had a sensitivity of 93% at a specificity of 90% in the test set. Performance was not affected by age, sex, BMI, or smoking history. Performance was affected by BE segment length where sensitivity was lower at 80% for short segment BE. The test was well tolerated and safe when performed by RNs in the clinic.

The next step in this journey is the setting of the algorithm, which will be used to make the determination of test positivity and negativity, followed by independent validation.


Figure 2. Areas under the receiver operating characteristic curves (AUCs) in the training and test sets for Barrett’s esophagus detection using a 5 methylated DNA marker panel.

Read the full article online.

The information presented in Endoscopedia reflects the opinions of the authors and does not represent the position of the American Society for Gastrointestinal Endoscopy (ASGE). ASGE expressly disclaims any warranties or guarantees, expressed or implied, and is not liable for damages of any kind in connection with the material, information, or procedures set forth.

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