A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity?
Dig Liver Dis
; 44(11): 952-6, 2012 Nov.
Article
em En
| MEDLINE
| ID: mdl-22748914
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 TGFß-SMAD4 pathway inactivation and TGFα overexpression related to Helicobacter pylori infection.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Neoplásicas Hereditárias
/
Transativadores
/
Fator de Crescimento Transformador alfa
/
Proteínas de Homeodomínio
/
Polipose Intestinal
/
Proteína Smad4
/
Mucosa Gástrica
/
Gastrite Hipertrófica
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article