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Prevalence and risk factors of barrett’s esophagus in lynch syndrome

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Abstract

Lynch syndrome (LS), the most common hereditary cause of colorectal cancer, predisposes to upper gastrointestinal neoplasia. The prevalence of Barrett’s esophagus (BE) is elevated in some hereditary gastrointestinal cancer syndromes but has not been systematically evaluated in LS. We assessed the prevalence of BE, BE-related dysplasia, esophageal adenocarcinoma (EAC), and factors associated with BE in LS. Asymptomatic patients with a germline pathogenic variant (PV) in the DNA mismatch repair (MMR) genes undergoing EGD for LS surveillance were identified from a hereditary colorectal cancer registry. We assessed the prevalence of BE and compared demographic, clinical, and endoscopic factors in LS patients with and without BE by logistic regression analysis. 323 patients were included. 21 patients (6.5%) were diagnosed with BE including 38% of females and 33% without gastroesophageal reflux disease (GERD). Dysplasia was diagnosed in two patients (9.5%) and EAC in one (4.8%) patient. Factors associated with BE included male gender (OR 3.00, 1.21–7.46), age at last LS EGD (OR 1.04, 1.01–1.08), presence of hiatal hernia (OR 20.09, 4.57–88.23), hiatal hernia > 3 cm (OR 11.25, 2.41–51.94), and GERD (OR 3.39, 1.32–8.67). No MMR PV was associated with BE. BE was diagnosed in 1 of 15 patients undergoing EGD surveillance for LS and nearly 10% had dysplasia including one EAC. Risk factors associated with BE in LS are similar to those established for BE in the general population. More studies are needed to evaluate if an association between BE and LS exists.

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Data availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

Abbreviations

BE:

Barrett’s esophagus

BMI:

Body mass index

EAC:

Esophageal adenocarcinoma

EGD:

Esophagogastroduodenoscopy

FAP:

Familial adenomatous polyposis

GERD:

Gastroestophageal reflux disease

LS:

Lynch Syndrome

MMR:

Mismatch repair

MSI:

Microsatellite instability

MAP:

MUTYH-associated polyposis

NSAID:

Non-steroidal anti-inflammatory drug

OR:

Odds ratio

PPI:

Proton pump inhibitor

PV:

Pathogenic variant

US:

United States

References

  1. Lynch HT, Snyder CL, Shaw TG et al (2015) Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer 15(3):181–194. https://doi.org/10.1038/nrc3878

    Article  CAS  Google Scholar 

  2. Bonadona V, Bonaïti B, Olschwang S et al (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305(22):2304–2310. https://doi.org/10.1001/jama.2011.743

    Article  CAS  Google Scholar 

  3. National Comprehensive Cancer Network (2020). Genetic/familial high-risk assessment: colorectal. Available from: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf

  4. Farha N, Hrabe J, Sleiman J et al (2021) Clinically actionable findings on surveillance EGD in asymptomatic patients with Lynch syndrome. Gastrointest Endosc. 95:105–114. https://doi.org/10.1016/j.gie.2021.07.004

    Article  Google Scholar 

  5. Sweetser S, Chandan VS, Baron TH. Dysphagia in Lynch syndrome. Gastroenterology. 2013 Nov;145(5):945, 1167–8. doi: https://doi.org/10.1053/j.gastro.2013.08.006. Epub 2013 Sep 25. PMID: 24075947.

  6. Sasaki H, Yamashita K, Nakase H. Pedunculated Upper Esophageal Adenocarcinoma in Lynch Syndrome. Clin Gastroenterol Hepatol. 2019 Apr;17(5):A20. doi: https://doi.org/10.1016/j.cgh.2018.06.008. Epub 2018 Aug 4. PMID: 30086273.

  7. Farha N, Savage E, Sleiman J, Burke CA. Using Immunohistochemistry to Expand the Spectrum of Lynch Syndrome-Related Tumors. ACG Case Rep J. 2021;8(11):e00691. Published 2021 Nov 3. doi:https://doi.org/10.14309/crj.0000000000000691

  8. Daans CG, Ghorbanoghli Z, Velthuizen ME et al (2020) Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP). Fam Cancer 19(2):183–187. https://doi.org/10.1007/s10689-020-00162-9

    Article  CAS  Google Scholar 

  9. Gatalica Z, Chen M, Snyder C, Mittal S, Lynch HT (2014) Barrett’s esophagus in the patients with familial adenomatous polyposis. Fam Cancer 13(2):213–217. https://doi.org/10.1007/s10689-013-9638-7

    Article  CAS  Google Scholar 

  10. Kumar S, Dudzik CM, Reed M, Long JM, Wangensteen KJ, Katona BW (2020) Upper Endoscopic Surveillance in Lynch Syndrome Detects Gastric and Duodenal Adenocarcinomas. Cancer Prev Res (Phila) 13(12):1047–1054. https://doi.org/10.1158/1940-6207.CAPR-20-0269

    Article  Google Scholar 

  11. Cook MB, Thrift AP (2021) Epidemiology of Barrett’s Esophagus and Esophageal Adenocarcinoma: Implications for Screening and Surveillance. Gastrointest Endosc Clin N Am 31(1):1–26. https://doi.org/10.1016/j.giec.2020.08.001

    Article  Google Scholar 

  12. Andrici J, Tio M, Cox MR, Eslick GD (2013) Hiatal hernia and the risk of Barrett’s esophagus. J Gastroenterol Hepatol 28(3):415–431. https://doi.org/10.1111/j.1440-1746.2012.07199

    Article  Google Scholar 

  13. Eusebi LH, Cirota GG, Zagari RM, Ford AC (2021) Global prevalence of Barrett’s oesophagus and oesophageal cancer in individuals with gastro-oesophageal reflux: a systematic review and meta-analysis. Gut 70(3):456–463. https://doi.org/10.1136/gutjnl-2020-321365

    Article  CAS  Google Scholar 

  14. Wani S, Falk G, Hall M et al (2011) Patients with nondysplastic Barrett’s esophagus have low risks for develo** dysplasia or esophageal adenocarcinoma. Clin Gastroenterol Hepatol 9(3):220-e26. https://doi.org/10.1016/j.cgh.2010.11.008

    Article  Google Scholar 

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Authors and Affiliations

  1. Departments of Internal Medicine, Cleveland Clinic, Cleveland, OH, USA

    Natalie Farha

  2. Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH, USA

    Ruishen Lyu

  3. Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA

    David Liska & Carol A. Burke

  4. Gastroenterology, Hepatology, and Nutrition, Cleveland Clinic, Desk A30, 9500 Euclid Avenue, Cleveland, OH, 44195, USA

    Amit Bhatt, Carole Macaron & Carol A. Burke

  5. Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA

    David Liska, Amit Bhatt, Carole Macaron & Carol A. Burke

Authors
  1. Natalie Farha
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  2. Ruishen Lyu
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  3. David Liska
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  4. Amit Bhatt
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  5. Carole Macaron
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  6. Carol A. Burke
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Contributions

Study conception and design: CAB, NF; Acquisition of data: NF; Interpretation of data: CAB, NF; Drafting of manuscript: NF, CAB; Critical revision: DL, AB, CM, CAB; Statistical Analysis: RL; Study Supervision: CAB.

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Correspondence to Carol A. Burke.

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Farha, N., Lyu, R., Liska, D. et al. Prevalence and risk factors of barrett’s esophagus in lynch syndrome. Familial Cancer 22, 55–60 (2023). https://doi.org/10.1007/s10689-022-00298-w

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