Biomarkers for non-endoscopic examination of esophageal mucosa

Czech version

Authors: Tereza Deissová ^1,2; Zdeněk Kala ³; Ondřej Slabý ²; Jiří Dolina ⁴; Radek Kroupa ⁴; Lumír Kunovský ^3,4; Lydie Izakovičová Hollá ^1,5; Petra Bořilová Linhartová ^1,5,6,7
Authors‘ workplace: Ústav patologické fyziologie LF MU Brno ¹; CEITEC MU Brno ²; Chirurgická klinika LF MU a FN Brno, pracoviště Bohunice ³; Interní gastroenterologická klinika LF MU a FN Brno, pracoviště Bohunice ⁴; Stomatologická klinika LF MU a FN u sv. Anny v Brně ⁵; Klinika ústní, čelistní a obličejové chirurgie LF MU a FN Brno, pracoviště Bohunice ⁶; Ústav lékařské genetiky LF MU Brno ⁷
Published in: Vnitř Lék 2020; 66(7): 13-19
Category:

Overview

Gastroesophageal reflux disease (GERD) is a multifactorial disease; an individual´s genetic predisposition may contribute to the development of this disorder. Endoscopic methods and histological examination are commonly used to diagnose GERD and its complications such as Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC). For BE screening in high-risk individuals as well as monitoring the development of BE dysplasia, esophageal mucosa samples could be taken using modern non-endoscopic procedures to minimize invasiveness of the procedure and improve patient adherence and compliance with a treatment. Esophageal mucosa samples taken by non-endoscopic or endoscopic biopsy can be analyzed both by immunohistochemistry and molecular biology analysis for specific biomarkers. Markers such as caudal type homeobox 2 (CDX2) and protein p53 have found their use in GERD diagnosis, and therefore research in recent years has focused on identifying other biomarkers that could reliably predict the development and progression of BE or EAC. This review article summarizes information on modern non-endoscopic methods of sampling from the esophagus mucosa and biomarkers, which have been studied in connection with the prediction and diagnosis of BE and EAC and have a potential for the use in clinical practice.

Keywords:

Barrett’s esophagus – esophageal adenocarcinoma – biomarkers – CytospongeTM – EsoCheck – EsophaCapsTM – miRNA – protein p53

Sources

1. Clermont M, Falk WG. Clinical guidelines update on the diagnosis and management of Barrett´s esophagus. Dig Dis Sci 2018; 63: 2122–2128.

2. Fass R, Dickman R. Clinical Consequences of Silent Gastroesophageal Reflux Disease. Curr Gastroenterol Rep 2006; 8: 194–200.

3. Sawas T, Killcoyne S, Iyer PG, et al. Identification of Prognostic Phenotypes of Esophageal Adenocarcinoma in 2 Independent Cohorts. Gastroenterology 2018; 155: 1720–1728.

4. Kroupa R. Barrettův jícen, rizikové faktory, léčba. Interní Med 2012; 14: 104–106. 5. Freeman M, Offman J, Walter MF, et al. Acceptability of the Cytosponge procedure for detecting Barrett’s oesophagus: a qualitative study. BMJ Open 2017; 7: e013901.

6. Shaheen N, Falk GW, Iyer PG, et al. ACG Clinical Guideline: Diagnosis and Management of Barrett’s Esophagus. Am J Gastroenterol 2016; 111: 30–50.

7. Fitzgerald RC, di Pietro M, Ragunath K, et al. British Society of Gastroenterology guidelines on the diagnosis and management of Barrett’s oesophagus. Gut 2014; 63: 7–42.

8. Iqbal U, Siddique O, Ovalle A, et al. Safety and efficacy of a minimally invasive cell sampling device (‘Cytosponge’) in the diagnosis of esophageal pathology: a systematic review. Eur J Gastroenterol Hepatol 2018; 30: 1261–1269.

9. Katzka AD. Recent Advances in Non-invasive Esophageal Tissue Sampling. Curr Gastroenterol Rep 2017; 19: 9.

10. Szoka N, Fazi J. 2019. Cytosponge™ – A SAGES Technology and Value Assessment. SAGES - Society of American Gastrointestinal and Endoscopic Surgeons (online). Dostupné z: https://www.sages.org/publications/tavac/cytosponge/

11. Zhou Z, Kalatskaya I, Russell D, et al. Combined EsophaCap cytology and MUC2 immunohistochemistry for screening of intestinal metaplasia, dysplasia and carcinoma. Clin Exp Gastroenterol 2019; 12: 219–229.

12. Li X, Kleeman S, Coburn SB, et al. Selection and Application of Tissue microRNAs for Nonendoscopic Diagnosis of Barrett’s Esophagus. Gastroenterology 2018; 155: 771–783.

13. Wang Z, Kambhampati S, Cheng Y, et al. Methylation Biomarker Panel Performance in EsophaCap Cytology Samples for Diagnosing Barrett’s Esophagus: A Prospective Validation Study. Clin Cancer Res 2019; 1: 2127–2135.

14. EsoCheck | Lucid Diagnostics | United State. Lucid Diagnostics | Biomarkers for Esophageal Cancer | New York (online). Copyright © 2019 Lucid Diagnostics (cit. 23.10.2019). Dostupné z: https://www.luciddx.com/esocheck

15. Moinova HR, LaFramboise T, Lutterbaugh JD, et al. Identifying DNA methylation biomarkers for non-endoscopic detection of Barrett’s esophagus. Sci Transl Med 2018; 17: pii: eaao5848.

16. Qureshi AP, Stachler MD, Haque O, et al. Biomarkers for Barrett’s esophagus – a contemporary review. Expert Rev Mol Diagn 2018; 18: 939–946.

17. Naini VB, Souza FR, Odze DR. Barrett’s Esophagus: A Comprehensive and Contemporary Review for Pathologists. Am J Surg Pathol 2016; 40: e45–e66.

18. Mutační analýza genu p53 – Oddělení lékařské genetiky FN Brno. Oddělení lékařské genetiky FN Brno (online). Copyright © 2016 (cit. 25.10.2019). Dostupné z: https://genetikabrno.eu/vysetrujeme/mutacni-analyza-genu-p53/

19. Chettouh H, Mowforth O, Galeano-Dalmau N, et al. Methylation panel is a diagnostic biomarker for Barrett’s oesophagus in endoscopic biopsies and nonendoscopic cytology specimens. Gut 2018; 67: 1942–1949.

20. Iyer PG, Taylor WR, Johnson ML, et al. Highly Discriminant Methylated DNA Markers for the Non-endoscopic Detection of Barrett’s Esophagus. Am J Gastroenterol 2018; 113: 1156–1166.

21. Kailasam A, Mittal KS, Agrawal KD. Epigenetics in the Pathogenesis of Esophageal Adenocarcinoma. Clin Transl Sci 2015; 8: 394–402.

22. Cassandri M, Smirnov A, Novelli F, et al. Zinc-finger proteins in health and disease. Cell Death Discov 2017; 3: 17071.

23. Jia Y, Yang Y, Brock VM, et al. Methylation of TFPI-2 is an early event of esophageal carcinogenesis. Epigenomics 2012; 4: 135–146.

24. Shivdasani RA. MicroRNAs: regulators of gene expression and cell differentiation. Blood 2006; 108: 3646–3653.

25. Slaby O, Srovnal J, Radova L, et al. Dynamic changes in microRNA expression profiles reflect progression of Barrett’s esophagus to esophageal adenocarcinoma. Carcinogenesis 2015; 36: 521–527.

26. Konda AJV, Souza FR. Biomarkers of Barrett’s Esophagus: From the Laboratory to Clinical Practice. Dig Dis Sci 2018; 63: 2070–2080.

27. Fabisiak A, Bartoszek A, Kardas G, et al. Possible application of trefoil factor family peptides in gastroesophageal reflux and Barrett’s esophagus. Peptides 2019; 115: 27–31.

28. Miller MD, Thomas DS, Islam A, et al. c-Myc and Cancer Metabolism. Clin Cancer Res 2012; 18: 5546–5553.

29. Rugge M, Fassan M, Zaninotto G, et al. Aurora kinase A in Barrett’s carcinogenesis. Hum Pathol 2010; 41: 1380–1386.

31. Groisman MG, Amar M, Meir A. Expression of the intestinal marker Cdx2 in the columnar-lined esophagus with and without intestinal (Barrett’s) metaplasia. Mod Pathol 2004; 17: 1282–1288.

32. Lalkhen GA, McCluskey A. Clinical tests: sensitivity and specificity. Continuing Education in Anaesthesia Critical Care & Pain 2008; 8: 221–223.

33. Thota, Chak. Mass Screening for Barrett’s esophagus: Myth or Reality? Clin Gastroenterol Hepatol 2018; 17: 610–612.

34. Kadri SR, Lao-Sirieix P, O’Donovan M, et al. Acceptability and accuracy of a non-endoscopic screening test for Barrett’s oesophagus in primary care: cohort study. BMJ 2010; 10; 341: c4372.

35. Ross-Innes CS, Debiram-Beecham I, O’Donovan M, et al. Evaluation of a minimally invasive cell sampling device coupled with assessment of trefoil factor 3 expression for diagnosing Barrett’s esophagus: a multi-center case-control study. PLoS Med 2015; 29; e1001780.

36. Ross-Innes CS, Chettouh H, Achilleos A, et al. Risk stratification of Barrett’s oesophagus using a non-endoscopic sampling method coupled with a biomarker panel: a cohort study. Lancet Gastroenterol Hepatol.2017; 2: 23–31.

37. Kroupa R, Konečný Š, Dolina J. Současné trendy v diagnostice a léčbě refluxní nemoci jícnu. Vnitř Lék 2018; 64: 588–594.

38. Svoboda P, Dítě P, Klvaňa P, et al. Rizikové faktory a prediktory progrese Barretova jícnu do adenokarcinomu. Vnitř Lék 2014; 60: 467–473.