Skip to main content
Top
Published in: Familial Cancer 2/2020

Open Access 01-04-2020 | Endoscopy | Original Article

Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP)

Authors: Ceranza G. Daans, Zeinab Ghorbanoghli, Mary E. Velthuizen, Hans F. A. Vasen, George J. A. Offerhaus, Miangela M. Lacle, Peter D. Siersema, Margreet G. E. M. Ausems, Jurjen J. Boonstra

Published in: Familial Cancer | Issue 2/2020

Login to get access

Abstract

Barrett’s oesophagus (BE) has been associated with an increased risk of both colorectal adenomas and colorectal cancer. A recent investigation reported a high frequency of BE in patients with adenomatous polyposis coli (APC)-associated polyposis (FAP). The aim of the present study is to evaluate the prevalence of BE in a large cohort of patients with MUTYH-associated polyposis (MAP) and APC-associated adenomatous polyposis. Patients with a genetically confirmed diagnosis of familial adenomatous polyposis (FAP) or MAP were selected and upper gastrointestinal (GI) endoscopy reports, pathology reports of upper GI biopsies were reviewed to determine the prevalence of BE in these patients. Histologically confirmed BE was found in 7 (9.7%) of 72 patients with MAP. The mean age of diagnosis was 60.2 years (range 54.1–72.4 years). Two patients initially diagnosed with low grade dysplasia showed fast progression into high grade dysplasia and esophageal cancer, respectively. Only 4 (1.4%) of 365 patients with FAP were found to have pathologically confirmed BE. The prevalence of BE in patients with MAP is much higher than reported in the general population. We recommend that upper GI surveillance of patients with MAP should not only focus on the detection of gastric and duodenal adenomas but also on the presence of BE.
Literature
1.
go back to reference Hvid-Jensen F, Pedersen L, Drewes AM et al (2011) Incidence of adenocarcinoma among patients with Barrett’s esophagus. N Engl J Med 365:1375–1383CrossRef Hvid-Jensen F, Pedersen L, Drewes AM et al (2011) Incidence of adenocarcinoma among patients with Barrett’s esophagus. N Engl J Med 365:1375–1383CrossRef
2.
go back to reference Harrison RF, Perry I, Balkwill F et al (2000) Barrett’s metaplasia. Lancet 356:2079–2085CrossRef Harrison RF, Perry I, Balkwill F et al (2000) Barrett’s metaplasia. Lancet 356:2079–2085CrossRef
3.
go back to reference Levine DM, Ek WE, Zhang R et al (2013) A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett’s esophagus. Nat Genet 45:1487–1493CrossRef Levine DM, Ek WE, Zhang R et al (2013) A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett’s esophagus. Nat Genet 45:1487–1493CrossRef
4.
go back to reference Ek WE, Levine DM, D’Amato M et al (2013) Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett’s esophagus, and gastroesophageal reflux. J Natl Cancer Inst 105:1711–1718CrossRef Ek WE, Levine DM, D’Amato M et al (2013) Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett’s esophagus, and gastroesophageal reflux. J Natl Cancer Inst 105:1711–1718CrossRef
5.
go back to reference Ronkainen J, Aro P, Storskrubb T et al (2005) Prevalence of Barrett’s esophagus in the general population: an endoscopic study. Gastroenterology 129:1825–1831CrossRef Ronkainen J, Aro P, Storskrubb T et al (2005) Prevalence of Barrett’s esophagus in the general population: an endoscopic study. Gastroenterology 129:1825–1831CrossRef
6.
go back to reference Zagari RM, Fuccio L, Wallander MA et al (2008) Gastro-oesophageal reflux symptoms, oesophagitis and Barrett’s oesophagus in the general population: the Loiano-Monghidoro study. Gut 57:1354–1359CrossRef Zagari RM, Fuccio L, Wallander MA et al (2008) Gastro-oesophageal reflux symptoms, oesophagitis and Barrett’s oesophagus in the general population: the Loiano-Monghidoro study. Gut 57:1354–1359CrossRef
7.
go back to reference Peng S, Cui Y, Xiao YL et al (2009) Prevalence of erosive esophagitis and Barrett’s esophagus in the adult Chinese population. Endoscopy 41:1011–1017CrossRef Peng S, Cui Y, Xiao YL et al (2009) Prevalence of erosive esophagitis and Barrett’s esophagus in the adult Chinese population. Endoscopy 41:1011–1017CrossRef
8.
go back to reference Lee IS, Choi SC, Shim KN et al (2010) Prevalence of Barrett’s esophagus remains low in the Korean population: nationwide cross-sectional prospective multicenter study. Dig Dis Sci 55:1932–1939CrossRef Lee IS, Choi SC, Shim KN et al (2010) Prevalence of Barrett’s esophagus remains low in the Korean population: nationwide cross-sectional prospective multicenter study. Dig Dis Sci 55:1932–1939CrossRef
9.
go back to reference Zou D, He J, Ma X et al (2011) Epidemiology of symptom-defined gastroesophageal reflux disease and reflux esophagitis: the systematic investigation of gastrointestinal diseases in China (SILC). Scand J Gastroenterol 46:133–141CrossRef Zou D, He J, Ma X et al (2011) Epidemiology of symptom-defined gastroesophageal reflux disease and reflux esophagitis: the systematic investigation of gastrointestinal diseases in China (SILC). Scand J Gastroenterol 46:133–141CrossRef
10.
go back to reference Kumaravel A, Thota PN, Lee HJ et al (2014) Higher prevalence of colon polyps in patients with Barrett’s esophagus: a case–control study. Gastroenterol Rep (Oxf) 2:281–287CrossRef Kumaravel A, Thota PN, Lee HJ et al (2014) Higher prevalence of colon polyps in patients with Barrett’s esophagus: a case–control study. Gastroenterol Rep (Oxf) 2:281–287CrossRef
11.
go back to reference Gatalica Z, Chen M, Snyder C (2014) Barrett’s esophagus in the patients with familial adenomatous polyposis. Fam Cancer 13:213–217CrossRef Gatalica Z, Chen M, Snyder C (2014) Barrett’s esophagus in the patients with familial adenomatous polyposis. Fam Cancer 13:213–217CrossRef
12.
go back to reference Gupta M, Dhavaleshwar D, Gupta V et al (2011) Barrett esophagus with progression to adenocarcinoma in multiple family members with attenuated familial polyposis. Gastroenterol Hepatol (NY) 7:340–342 Gupta M, Dhavaleshwar D, Gupta V et al (2011) Barrett esophagus with progression to adenocarcinoma in multiple family members with attenuated familial polyposis. Gastroenterol Hepatol (NY) 7:340–342
13.
go back to reference Al-Tassan N, Chmiel NH, Maynard J et al (2002) Inherited variants of MYH associated with somatic G: C → T: A mutations in colorectal tumors. Nat Genet 30:227–232CrossRef Al-Tassan N, Chmiel NH, Maynard J et al (2002) Inherited variants of MYH associated with somatic G: C → T: A mutations in colorectal tumors. Nat Genet 30:227–232CrossRef
14.
go back to reference Ruggieri V, Pin E, Russo MT et al (2013) Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. Oncogene 32:4500–4508CrossRef Ruggieri V, Pin E, Russo MT et al (2013) Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. Oncogene 32:4500–4508CrossRef
15.
go back to reference Vogt S, Jones N, Christian D et al (2009) Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 137:1976–1985CrossRef Vogt S, Jones N, Christian D et al (2009) Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 137:1976–1985CrossRef
16.
go back to reference Gallagher M, Phillips R, Bulow S (2006) Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis. Fam Cancer 5:263–273CrossRef Gallagher M, Phillips R, Bulow S (2006) Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis. Fam Cancer 5:263–273CrossRef
17.
go back to reference Katz PO, Gerson LB, Vela MF (2013) Diagnosis and management of gastroesophageal reflux disease. Am J Gastroenterol 108:308–328CrossRef Katz PO, Gerson LB, Vela MF (2013) Diagnosis and management of gastroesophageal reflux disease. Am J Gastroenterol 108:308–328CrossRef
18.
go back to reference Wang KK, Sampliner RE, Practice Parameters Committee of the American College of Gastroenterology (2008) Updated guidelines 2008 for the diagnosis, surveillance and therapy of Barrett’s esophagus. Am J Gastroenterol 103:788–797CrossRef Wang KK, Sampliner RE, Practice Parameters Committee of the American College of Gastroenterology (2008) Updated guidelines 2008 for the diagnosis, surveillance and therapy of Barrett’s esophagus. Am J Gastroenterol 103:788–797CrossRef
19.
go back to reference Olyaee M, Sontag S, Salman W et al (1995) Mucosal reactive oxygen species production in oesophagitis and Barrett’s oesophagus. Gut 37:168–173CrossRef Olyaee M, Sontag S, Salman W et al (1995) Mucosal reactive oxygen species production in oesophagitis and Barrett’s oesophagus. Gut 37:168–173CrossRef
20.
go back to reference Jimenez P, Piazuelo E, Sanchez MT et al (2005) Free radicals and antioxidant systems in reflux esophagitis and Barrett’s esophagus. World J Gastroenterol 11:2697–2703CrossRef Jimenez P, Piazuelo E, Sanchez MT et al (2005) Free radicals and antioxidant systems in reflux esophagitis and Barrett’s esophagus. World J Gastroenterol 11:2697–2703CrossRef
21.
go back to reference Hardikar S, Onstad L, Song X et al (2014) Inflammation and oxidative stress markers and esophageal adenocarcinoma incidence in a Barrett’s esophagus cohort. Cancer Epidemiol Biomark Prev 23:2393–2403CrossRef Hardikar S, Onstad L, Song X et al (2014) Inflammation and oxidative stress markers and esophageal adenocarcinoma incidence in a Barrett’s esophagus cohort. Cancer Epidemiol Biomark Prev 23:2393–2403CrossRef
Metadata
Title
Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP)
Authors
Ceranza G. Daans
Zeinab Ghorbanoghli
Mary E. Velthuizen
Hans F. A. Vasen
George J. A. Offerhaus
Miangela M. Lacle
Peter D. Siersema
Margreet G. E. M. Ausems
Jurjen J. Boonstra
Publication date
01-04-2020
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 2/2020
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-020-00162-9

Other articles of this Issue 2/2020

Familial Cancer 2/2020 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine