title: Massive gastric polyposis associated with a germline SMAD4 gene mutation.
abstract: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. Polyps are most common in the colorectum (98% of patients) and the stomach (14%). Causative mutations for JPS have been identified in two genes to date, SMAD4 and BMPR1A. SMAD4 mutations are associated with a higher incidence of gastric polyposis. In this case report, we describe two patients with massive gastric polyposis associated with a SMAD4 mutation. Both presented with anaemia and both had colonic polyps. Initial endoscopic findings revealed giant rugal folds suggestive of Ménétrier disease. However, as other possible gastropathies could not be differentiated on the basis of histology, a definitive diagnosis of JPS required additional mutation analysis. In patients with polyposis predominant in or limited to the stomach, establishing a diagnosis based solely on the pathological features of polyps can be challenging due to difficulties in differentiating JPS from other hypertrophic gastropathies. Mutation analysis should be considered early in the diagnostic process in cases of suspected juvenile polyposis, thus facilitating rapid diagnosis and adequate follow-up.
authors.affiliation: Department of Gastroenterology and Hepatology, Isala Clinics, P.O. Box 10400, 8000 GK, Zwolle, The Netherlands. elinesoer@gmail.com.
authors.forename: Eline
authors.identifier: http://orcid.org/0000-0002-7695-3719
authors.initials: E
authors.lastname: Soer
authors.affiliation: Department of Gastroenterology and Hepatology, Isala Clinics, P.O. Box 10400, 8000 GK, Zwolle, The Netherlands.
authors.forename: Wouter H
authors.initials: WH
authors.lastname: de Vos Tot Nederveen Cappel
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Marjolijn J L
authors.initials: MJ
authors.lastname: Ligtenberg
authors.affiliation: Department of Pathology, Isala Clinics, Zwolle, The Netherlands.
authors.forename: Freek
authors.initials: F
authors.lastname: Moll
authors.affiliation: Department of Surgery, Isala Clinics, Zwolle, The Netherlands.
authors.forename: Robert G
authors.initials: RG
authors.lastname: Pierik
authors.affiliation: Department of Gastroenterology and Hepatology, Isala Clinics, P.O. Box 10400, 8000 GK, Zwolle, The Netherlands.
authors.forename: Juda
authors.initials: J
authors.lastname: Vecht
authors.affiliation: The Netherlands Foundation for the Detection of Hereditary Tumors, Leiden, The Netherlands.
authors.forename: Hans F A
authors.initials: HF
authors.lastname: Vasen
authors.affiliation: Department of Gastroenterology and Hepatology, Isala Clinics, P.O. Box 10400, 8000 GK, Zwolle, The Netherlands.
authors.forename: Antoine
authors.initials: A
authors.lastname: Flierman
mesh_terms: D018256:Adenomatous Polyps / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D051901:Smad4 Protein / Q000235:genetics*; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C497796:SMAD4 protein, human; D051901:Smad4 Protein
keywords: Gastric polyposis; Juvenile polyposis; SMAD4 mutation