A Giant Gastric Hyperplastic Polyp in Non-Familial Juvenile Polyposis of the Stomach: A Case Report

Juvenile Polyposis Syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract, which may also occur in people with no family history of the disorder. It usually involves the colorectum and more rarely the stomach. Juvenile polyps can vary in size from a few millimeters to over 5cm, and, although they have microscopically specific characteristics, the distinction between them and inflammatory polyps is often difficult. Here we present a case of 41 year old woman with no family history of polyposis who underwent esophagogastroduodenoscopy (EGDS) because of anemia that showed a huge and extensive gastric lesion (10 cm in diameter) and other small polyps scattered through the stomach lumen and duodenum. The histology report revealed the big lesion and the polyps were hyperplastic polyps with infiltration of inflammatory cells. Due to clinical history and EGDS findings, the patient underwent a pylorus-preserving gastrectomy, and to define a final diagnosis genetic test was performed and showed mutation in the SMAD4 gene. Thus non-familial juvenile polyposis of the stomach was diagnosed. An original feature of the current case was the rare finding of huge hyperplastic gastric polyp in a woman with rare non-familial JPS of the stomach. In fact, to our best knowledge this is the first report describing a so giant gastric polyp in JPS of the stomach in an adult woman. Furthermore, our report suggests that it is noteworthy to consider JP as differential diagnosis in patients with non-familial polyposis, anemia or hypoproteinemia and polyps histologically diagnosed as hyperplastic and performing genetic testing for confirming diagnosis and helping in the timely and appropriate management.