Gene panel to predict progression of Barrett's esophagus to cancer

This technology is a gene panel that uses next generation sequencing to predict progression of esophagitis and Barrett’s esophagus to dysplasia and/or esophageal adenocarcinoma.

Unmet Need: Improved surveillance of patients with Barrett’s esophagus

Current guidelines for prevention and early detection of esophageal adenocarcinoma recommend repeat surveillance endoscopies with multiple biopsies followed by pathological examination to detect metaplasia and dysplasia. The detection and diagnosis of dysplasia is hampered by sampling errors and high interobserver diagnostic variability. Surveillance could be improved by implementation of risk stratification.

The Technology: Gene panel for comprehensive monitoring of patients with Barrett’s esophagus

This gene panel uses targeted next generation sequencing and a unique combination of sequencing primers. The assay can be performed with DNA from fresh or paraffin-embedded formalin fixed (FFPE) samples. DNA may be obtained from Barrett’s tissue samples or cytology preparations, as well as circulating cells and DNA from blood. Data analysis includes reporting single nucleotide variants, indels, genomic losses and gains, copy number variations, and copy-neutral loss of heterozygosity. This technology can be used to stratify patients with Barrett’s esophagus into sub-groups with low or high-risk of progressing to dysplasia and adenocarcinoma.

Applications:

• Diagnostic test for predicting outcomes of patients with Barrett’s esophagus
• Diagnostic test for related cancers with similar genetic biomarkers
• Research tool for studying progression of Barrett’s esophagus to dysplasia and/or esophageal adenocarcinoma

Advantages:

• Compatible with all next generation sequencing platforms
• Can be used with a wide variety of sample types, including FFPE samples
• Can improve surveillance and outcomes of patients with Barrett’s esophagus

Lead Inventor:

Antonia Sepulveda, M.D., Ph.D.

Patent Information:

Patent Pending (US 20200071767)

Related Publications:

• Del Portillo A, Lagana SM, Yao Y, Uehara T, Jhala N, Ganguly T, Nagy P, Gutierrez J, Luna A, Abrams J, Liu Y, Brand R, Sepulveda JL, Falk GW, Sepulveda AR. “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” J Mol Diagn. 2015 Jul; 17(4): 412–419.

Tech Ventures Reference:

• IR CU18204

• Licensing Contact: Joan Martinez