Aneuploidy in targeted endoscopic biopsies outperforms other tissue biomarkers in the prediction of histologic progression of Barrett's oesophagus: A multi-centre prospective cohort study

EBioMedicine. 2020 Jun:56:102765. doi: 10.1016/j.ebiom.2020.102765. Epub 2020 May 24.

Abstract

Background: The cancer risk in Barrett's oesophagus (BO) is difficult to estimate. Histologic dysplasia has strong predictive power, but can be missed by random biopsies. Other clinical parameters have limited utility for risk stratification. We aimed to assess whether a molecular biomarker panel on targeted biopsies can predict neoplastic progression of BO.

Methods: 203 patients with BO were tested at index endoscopy for 9 biomarkers (p53 and cyclin A expression; aneuploidy and tetraploidy; CDKN2A (p16), RUNX3 and HPP1 hypermethylation; 9p and 17p loss of heterozygosity) on autofluorescence-targeted biopsies and followed-up prospectively. Data comparing progressors to non-progressors were evaluated by univariate and multivariate analyses using survival curves, Cox-proportional hazards and logistic regression models.

Findings: 127 patients without high-grade dysplasia (HGD) or oesophageal adenocarcinoma (OAC) at index endoscopy were included, of which 42 had evidence of any histologic progression over time. Aneuploidy was the only predictor of progression from non-dysplastic BO (NDBO) to any grade of neoplasia (p = 0.013) and HGD/OAC (p = 0.002). Aberrant p53 expression correlated with risk of short-term progression within 12 months, with an odds ratio of 6.0 (95% CI: 3.1-11.2). A panel comprising aneuploidy and p53 had an area under the receiving operator characteristics curve of 0.68 (95% CI: 0.59-0.77) for prediction of any progression.

Interpretation: Aneuploidy is the only biomarker that predicts neoplastic progression of NDBO. Aberrant p53 expression suggests prevalent dysplasia, which might have been missed by random biopsies, and warrants early follow up.

Keywords: Barrett's oesophagus; Biomarkers; Dysplasia; Histologic progression; Oesophageal adenocarcinoma.

Publication types

  • Multicenter Study

MeSH terms

  • Adenocarcinoma / genetics*
  • Aged
  • Aged, 80 and over
  • Aneuploidy*
  • Barrett Esophagus / genetics
  • Barrett Esophagus / pathology*
  • Core Binding Factor Alpha 3 Subunit / genetics
  • Cyclin A / genetics
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Disease Progression
  • Endoscopy
  • Esophageal Neoplasms / genetics*
  • Female
  • Genetic Markers*
  • Humans
  • Logistic Models
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Prospective Studies
  • Tumor Suppressor Protein p53 / genetics

Substances

  • CDKN2A protein, human
  • Core Binding Factor Alpha 3 Subunit
  • Cyclin A
  • Cyclin-Dependent Kinase Inhibitor p16
  • Genetic Markers
  • Membrane Proteins
  • Neoplasm Proteins
  • Runx3 protein, human
  • TMEFF2 protein, human
  • TP53 protein, human
  • Tumor Suppressor Protein p53

Supplementary concepts

  • Adenocarcinoma Of Esophagus