Mutational load may predict risk of progression in patients with Barrett's oesophagus and indefinite for dysplasia: A pilot study

Arvind J. Trindade, Matthew J. McKinley, Mohammad Alshelleh, Gabriel Levi, Molly Stewart, Kathy J. Quinn, Rebecca M. Thomas

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish
Article numbere000268
JournalBMJ Open Gastroenterology
Volume6
Issue number1
DOIs
StatePublished - 1 Feb 2019
Externally publishedYes

Keywords

  • DNA
  • esophageal cancer
  • genomic instability
  • risk stratification

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