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Abstract
Background and aims Mutational load (ML) has been shown to help risk-stratify those that may progress from non-dysplastic Barrett’s oesophagus (BE) to dysplastic disease. Management of patients with BE and indefinite for dysplasia (BE-IND) is challenging and risk stratification tools are lacking. The aim of this pilot study is to evaluate the utility of ML for risk stratification in patients with BE-IND.
Methods This is a single-centre, retrospective pilot study evaluating ML quantification in patients with BE-IND. Histology at follow-up endoscopy at least 1 year after the baseline endoscopy was used to determine if a patient progressed to low or high dysplasia. The ML levels were then compared among patients who progressed to dysplasia versus those who did not.
Results Thirty-five patients who met the inclusion criteria were identified, and seven met the exclusion criteria. Twenty-eight patients were analysed, of whom eight progressed to low-grade dysplasia (6) and high-grade dysplasia (2). Seven of these eight patients had some level of genomic instability detected in their IND biopsy (ML ≥0.5). Ten of the 20 (50%) who did not progress had no ML level. At an ML cut-off above 1.5, the risk of progression to high-grade dysplasia was 33% vs 0% (p=0.005), with a sensitivity of 100% and a specificity of 85%.
Conclusion These results indicate that ML may be able to risk-stratify progression to high-grade dysplasia in BE-IND. Larger studies are needed to confirm these findings.
- esophageal cancer
- DNA
- risk stratification
- genomic instability
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Footnotes
Contributors Conception and design: AJT, RMT. Analysis and interpretation of the data: AJT, MJM, MA, GL, MS, KJQ, RMT. Drafting of the article: AJT, MJM, MA, GL, MS, KJQ, RMT. Critical revision of the article for important intellectual content: AJT, MJM, MA, GL, MS, KJQ, RMT. Final approval of the article: AJT, MJM, MA, GL, MS, KJQ, RMT.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors. Interpace Diagnostics kindly supported the open access charges for this article. Interpace was not involved in the trial design, conduct of the trial, or preparation of the manuscript.
Competing interests None declared.
Patient consent for publication Not required.
Ethics approval The study was approved by the Zucker School of Medicine Institutional Review Board. All research was performed in accordance with all relevant guidelines/regulations and conforms to the ethical guidelines of the 1975 Declaration of Helsinki. Informed consent was obtained from all participants.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement Specific requests for data included in this study can be made to Arvind.trindade@gmail.com.