title: Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.
abstract: The autosomal dominantly inherited juvenile polyposis syndrome (JPS) leads to the development of multiple hamartomatous polyps in the gastrointestinal tract and is a precancerous condition. In a large family with a newly identified SMAD4 mutation (c.543delC), we describe the clinical manifestations of JPS. Nine affected SMAD4 mutation-positive family members were screened and treated for manifestations of JPS. Two family members were symptomatic at the time of diagnosis; seven were asymptomatic - independent of the severity of the manifestation. Each mutation carrier presented with colonic juvenile polyps, seven out of nine with additional gastric manifestations. One asymptomatic patient had early gastric cancer; another patient had a villous adenoma with high-grade intraepithelial neoplasia in the colon. Three patients had biliary lesions including a bile duct hamartoma in one and gallbladder polyps in two. Three patients had gastrointestinal vascular malformations. All mutation carriers were affected by JPS. Interestingly, the manifestations and their severity differed considerably between the patients, suggesting secondary factors influencing JPS manifestations such as Helicobacter pylori infection.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, Graz, Austria.
authors.forename: Verena
authors.initials: V
authors.lastname: Schwetz
authors.forename: Sabine
authors.initials: S
authors.lastname: Uhrig
authors.forename: Ekkehard
authors.initials: E
authors.lastname: Spuller
authors.forename: Andrea
authors.initials: A
authors.lastname: Deutschmann
authors.forename: Christoph
authors.initials: C
authors.lastname: Högenauer
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003082:Colectomy; D003113:Colonoscopy; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics / Q000601:surgery; D005773:Gastroscopy; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital* / Q000235:genetics / Q000601:surgery; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000601:surgery; D010375:Pedigree; D011230:Precancerous Conditions / Q000235:genetics* / Q000601:surgery; D051901:Smad4 Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: D051901:Smad4 Protein