High importance
Sep 8, 2026
To report a case of gastric juvenile-type polyposis associated with a SMAD4 mutation and highlight the importance of genetic testing in diagnosing hereditary syndromes.
The case study involved a 39-year-old woman with a history of teratoma who presented with anemia and gastrointestinal bleeding. Endoscopic examination revealed multiple gastric polyps, leading to endoscopic mucosal resections and next-generation sequencing for genetic analysis.
A pathogenic SMAD4 mutation was identified, confirming the diagnosis of gastric juvenile-type polyposis. Initial findings suggested hyperplastic polyps, but genetic testing provided clarity in diagnosis and potential management strategies.
The case study approach limits the applicability to broader populations; further research is needed to understand the prevalence and variety of presentations in larger cohorts.
This case underscores the significance of genetic testing for SMAD4 mutations in patients with unexplained gastrointestinal symptoms and multiple polyps, potentially altering management and improving patient outcomes.
Juvenile polyposis syndrome (JPS) is a rare autosomal-dominant disorder characterized by the presence of multiple hamartomatous polyps in the gastrointestinal tract. JPS has been established to be attributable to SMAD4 mutations, which are frequently associated with severe gastric phenotypes and hereditary hemorrhagic telangiectasia. We report the case of a 39-year-old woman with a history of immature teratoma, who presented with persistent anemia and upper gastrointestinal bleeding. Endoscopy revealed multiple gastric polyps, including a 5-cm polyp at the cardia. She underwent repeated endoscopic mucosal resections, with the initial histopathologic findings being consistent with hyperplastic polyps. Next-generation sequencing identified a pathogenic SMAD4 mutation, confirming the diagnosis of gastric juvenile-type polyposis. This case highlights the importance of considering hereditary polyposis syndromes in patients with multiple gastric polyps and anemia, even in the absence of a family history. Early genetic testing facilitates accurate diagnosis and enables appropriate endoscopic surveillance and management, as well as screening for extra-gastrointestinal manifestations.