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
作者： Armando Del Portillo , Stephen M. Lagana , Yuan Yao , Takeshi Uehara , Nirag Jhala
DOI: 10.1016/J.JMOLDX.2015.02.006
关键词: Endoscopic mucosal resection 、 Barrett's esophagus 、 Internal medicine 、 Esophagus 、 Cancer 、 Dysplasia 、 Biology 、 Intestinal metaplasia 、 CDKN2A 、 Gastroenterology 、 Adenocarcinoma
摘要: Barrett's intestinal metaplasia (BIM) may harbor genomic mutations before the histologic appearance of dysplasia and cancer requires frequent surveillance. We explored next-generation sequencing to detect with analytical sensitivity required predict concurrent high-grade (HGD) esophageal adenocarcinoma (EAC) in patients esophagus by testing nonneoplastic BIM. Formalin-fixed, paraffin-embedded (FFPE) routine biopsy or endoscopic mucosal resection samples from 32 were tested: nonprogressors HGD EAC (BIM-NP) BIM, who never had a diagnosis (N = 13); progressors (BIM-P) BIM worse 15); four BIM-negative samples. No detected BIM-NP (0 13) samples, whereas BIM-P 6 (75%) 8 cases TP53, APC, CDKN2A (P = 0.0005), as low 20% found that FFPE can multiple minute areas high sensitivity. Next-generation panels for detection TP53 possibly combined other genes, such APC CDKN2A, be useful clinical setting improve surveillance esophagus.
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