A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: Specific localization or concomitant occurrence of a separate entity?

Ada Piepoli, Gianluigi Mazzoccoli, Anna Panza, Virginia Tirino, Giuseppe Biscaglia, Annamaria Gentile, Maria Rosa Valvano, Celeste Clemente, Vincenzo Desiderio, Gianpaolo Papaccio, Michele Bisceglia, Angelo Andriulli

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Juvenile polyposis syndrome with gastric involvement may mimic Ménétrier's disease, which is correlated to transforming growth factor (TGF)α overproduction and PDX1 upregulation in the gastric fundus. Aim: We report a family with juvenile polyposis syndrome where one member showed typical features of Ménétrier's disease and concomitant Helicobacter pylori infection. Methods: We studied a 31-year-old woman belonging to a family with juvenile polyposis syndrome, who exhibited a particular form of hyperplastic gastropathy diagnosed as Ménétrier's disease with Helicobacter pylori infection. Results: TGFα overexpression and undetectable PDX1 expression were demonstrated in the fundic gastric biopsy specimens. In all affected members of the family we identified a 4-bp deletion in exon 9 of SMAD4 gene, a mutation usually associated with a more virulent form of juvenile polyposis syndrome with a higher incidence of gastric and colonic polyposis. Conclusion: To explain the association of juvenile polyposis syndrome with Ménétrier's disease we hypothesized a new mechanism that involves TGFβ-SMAD4 pathway inactivation and TGFα overexpression related to Helicobacter pylori infection.

Original languageEnglish
Pages (from-to)952-956
Number of pages5
JournalDigestive and Liver Disease
Volume44
Issue number11
DOIs
Publication statusPublished - Nov 2012

Keywords

  • Helicobacter pylori infection
  • Juvenile polyposis
  • Ménétrier's disease
  • PDX1 protein
  • SMAD4 gene
  • TGF-α expression

ASJC Scopus subject areas

  • Gastroenterology
  • Hepatology

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