June 12, 2015
1 min read

Genomic testing may help detect cancer in patients with Barrett's esophagus

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Next-generation sequencing panels that can identify genomic mutations in precancerous esophageal tissue may be useful for improving surveillance for cancer and dysplasia in patients with Barrett’s esophagus, according to new research data.

“The ability to detect mutations in non-neoplastic mucosa, quantitatively and with high detection sensitivity, makes it possible to use [next-generation sequencing] mutational testing in the early detection and surveillance of patients who develop [Barrett’s esophagus],” Antonia R. Sepulveda, MD, PhD, from Columbia University College of Physicians and Surgeons in New York, said in a press release.

Sepulveda and colleagues used next-generation sequencing to determine whether mutations in genes that are known to be associated with esophageal dysplasia or cancer in Barrett’s esophagus are predictive of high-grade dysplasia (HGD) or esophageal adenocarcinoma (EAC). They tested random nondysplastic or noncancer Barrett’s esophagus mucosa with intestinal metaplasia (BIM) in formalin-fixed, paraffin-embedded esophageal biopsy or endoscopic mucosal resection samples from 32 patients.

Thirteen patients were nonprogressors to HGD or EAC with BIM who were never diagnosed with HGD or EAC, 15 were progressors to HGD or EAC with BIM and a worse diagnosis of HGD or EAC, and four were without BIM. They found that among the eight progressors with DNA from BIM tissue tested, 75% had mutations in TP53, APC and CDKN2A (P = .0005), with BIM area as low as 20%.

“Our data indicate that DNA from routine endoscopic [formalin-fixed, paraffin-embedded] samples of nondysplastic BIM can be efficiently used to simultaneously detect multiple mutations by [next-generation sequencing] with high analytical sensitivity, enabling the application of genomic testing of [Barrett’s esophagus] patients for improved HGD and EAC surveillance in clinical practice,” the researchers concluded. – by Adam Leitenberger

Disclosure: The researchers report no relevant financial disclosures.