Evaluation of Mutational Testing of Preneoplastic Barrett's Mucosa by Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Endoscopic Samples for Detection of Concurrent Dysplasia and Adenocarcinoma in Barrett's Esophagus

Barrett's intestinal metaplasia (BIM) may harbor genomic mutations before the histologic appearance of dysplasia and cancer and requires frequent surveillance. We explored next-generation sequencing to detect mutations with the analytical sensitivity required to predict concurrent high-grade dysplasia (HGD) and esophageal adenocarcinoma (EAC) in patients with Barrett's esophagus by testing nonneoplastic BIM. Formalin-fixed, paraffin-embedded (FFPE) routine biopsy or endoscopic mucosal resection samples from 32 patients were tested: nonprogressors to HGD or EAC (BIM-NP) with BIM, who never had a diagnosis of dysplasia or EAC (N = 13); progressors to HGD or EAC (BIM-P) with BIM and a worse diagnosis of HGD or EAC (N = 15); and four BIM-negative samples.

Source: Journal of Molecular Diagnostics - June 8, 2015 Category: Pathology Authors: Armando Del Portillo, Stephen M. Lagana, Yuan Yao, Takeshi Uehara, Nirag Jhala, Tapan Ganguly, Peter Nagy, Jorge Gutierrez, Aesis Luna, Julian Abrams, Yang Liu, Randall Brand, Jorge L. Sepulveda, Gary W. Falk, Antonia R. Sepulveda Tags: Regular Article Source Type: research