ArticleFamilial cancer2015
Massive gastric polyposis associated with a germline SMAD4 gene mutation.
Article in Familial cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- A Case of Gastric Juvenile-Type Polyposis With SMAD4 Mutation.The Korean journal of helicobacter and upper gastrointestinal research · 2026Article
- Juvenile polyposis syndrome in a child with von Willebrand disease: a case report and literature review.Frontiers in pediatrics · 2025Article
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging.Internal medicine (Tokyo, Japan) · 2023Article
- A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant.Frontiers in oncology · 2023Article
- Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions.Cancer management and research · 2022Review
- SMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report.The American journal of case reports · 2021Article
- Two Asian families with gastric adenocarcinoma and proximal polyposis of the stomach successfully treated via laparoscopic total gastrectomy.Clinical journal of gastroenterology · 2021Article
- Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation.Familial cancer · 2019Article
- Ménétrier's disease presenting as recurrent unprovoked venous thrombosis: a case report.Journal of medical case reports · 2019Article
- First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2018Article
- Gastric Hamartomatous Polyps-Review and Update.Clinical medicine insights. Gastroenterology · 2016Review
- Giant Gastric Folds in Juvenile Polyposis.Case reports in gastroenterologyArticle
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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