Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions

Riccardo Carbone, Laura Rovedatti, Marco Vincenzo Lenti, Daniela Furlan, Edoardo Errichiello, Simone Gana, Ombretta Luinetti, Giovanni Arpa, Costanza Alvisi, Federico De Grazia, Enza Maria Valente, Fausto Sessa, Marco Paulli, Alessandro Vanoli, Antonio Di Sabatino

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised. Aims: To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs. Methods: This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010–2019. Age, gender, history of familial polyposis syndromes, DP/SML characteristics were recorded. Histopathological, immunohistochemical and molecular analyses were performed. Results: 399 non-ampullary DP/SMLs from 345 patients (60.6% males; median age 67 years) were identified. Gastric foveolar metaplasia represented the most frequent histotype (193 cases, 48.4%), followed by duodenal adenomas (DAs; 77 cases, 19.3%). Most DAs (median size 6 mm) were sessile (Paris Is; 48%), intestinal-type (96.1%) with low-grade dysplasia (93.5%). Among syndromic DAs (23%), 15 lesions occurred in familial adenomatous polyposis 1, two were in MUTYH-associated polyposis and one was in Peutz-Jeghers syndrome (foveolar-type, p53-positive, low-grade dysplasia). Only one (3.3%) tubular, low-grade DA showed mismatch repair deficiency (combined loss of MLH1 and PMS2, heterogeneous MSH6 expression), and it was associated with a MLH1 gene germline mutation (Lynch syndrome). Conclusion: DPs/SMLs are heterogeneous lesions, most of which showing foveolar metaplasia, followed by low-grade, intestinal-type, non-syndromic DAs. MMR-d testing may identify cases associated with Lynch syndrome.

Original languageEnglish
JournalDigestive and Liver Disease
DOIs
Publication statusAccepted/In press - 2021

Keywords

  • Adenoma
  • Duodenum
  • Polyposis syndromes
  • Polyps
  • Small bowel

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

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