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A unifying working hypothesis for Juvenile polyposis syndrome and Ménétrier's disease: Specific localization or concomitant occurrence of a separate entity?
MedLine Citation:
PMID:  22748914     Owner:  NLM     Status:  Publisher    
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.
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
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-27
Journal Detail:
Title:  Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver     Volume:  -     ISSN:  1878-3562     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-7-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100958385     Medline TA:  Dig Liver Dis     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
Laboratory of Gastroenterology, Scientific Institute and Regional General Hospital "Casa Sollievo della Sofferenza", S. Giovanni Rotondo, Italy.
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