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

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 t...

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Bibliographic Details
Published in:Familial cancer 2020-04, Vol.19 (2), p.183-187
Main Authors: Daans, Ceranza G., Ghorbanoghli, Zeinab, Velthuizen, Mary E., Vasen, Hans F. A., Offerhaus, George J. A., Lacle, Miangela M., Siersema, Peter D., Ausems, Margreet G. E. M., Boonstra, Jurjen J.
Format: Article
Language:English
Subjects:
Adenocarcinoma - etiology
Adenomatous polyposis coli
Adenomatous Polyposis Coli - complications
Adenomatous Polyposis Coli - genetics
Adult
Aged
Aged, 80 and over
Barrett Esophagus - epidemiology
Barrett Esophagus - etiology
Barrett Esophagus - pathology
Biomedical and Life Sciences
Biomedicine
Biopsy
Cancer Research
Colorectal cancer
Colorectal carcinoma
Diagnosis
DNA Glycosylases - genetics
Dysplasia
Endoscopy
Endoscopy, Gastrointestinal
Epidemiology
Esophageal cancer
Esophageal Neoplasms - etiology
Esophagus
Familial adenomatous polyposis
Female
Genetic disorders
Health risk assessment
Heredity
Human Genetics
Humans
Male
Middle Aged
Original
Original Article
Polyposis coli
Polyps
Prevalence
Tumors
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Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-020-00162-9