ArticleFrontiers in oncology2023
A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant.
Article in Frontiers in oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Expression of bone morphogenetic protein signaling pathway players in the jejunum and colon of adult rats.European journal of histochemistry : EJH · 2025Article
- Integrated multi-omics characterization of SMAD4 mutant colorectal cancer.Discover oncology · 2024Article
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6 authors at 1 institution in 1 country.
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Abstract
Background: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder that is a type of hamartomatous polyp syndrome, and its incidence rate is approximately 1/100000. The main clinical feature is the presence of multiple juvenile polyps in the gastrointestinal tract, most often in the colorectal tract. We present a case of juvenile polyposis syndrome with massive gastric polyposis. Case presentation: A 50-year-old male was admitted to the hospital due to abdominal distension and poor appetite. Gastroscopy revealed a large number of gastric polyps. Pathological findings revealed gastric juvenile polyps. Genetic testing revealed that he and his brother both carried Conclusions: Gastric involvement in juvenile polyposis syndrome is relatively rare. When massive gastric polyposis is found, gene detection should be carried out as soon as possible, so that rapid diagnosis and treatment can be obtained.
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