ArticleClinical journal of gastroenterology2026
PTEN negative adenocarcinoma developed in a gastric hamartoma polyp of a Cowden syndrome patient.
Article in Clinical journal of gastroenterology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Cowden syndrome (CS) is an autosomal dominant genetic cancer predisposition disease caused by mutation of the germline phosphatase and tensin homolog (PTEN) gene. A 60s-year-old man who has been diagnosed as CS at our hospital 10 years ago due to his medical history of Lhermitte-Duclos disease (LDD), thyroid medullary carcinoma and gastrointestinal polyposis. He was regularly followed up by the endoscopic examination of gastrointestinal polyps at our hospital. A recent routine examination revealed a surface irregular and hemorrhagic gastric polyp at the lower body of stomach. As a biopsy report showed a high possibility of carcinoma, an endoscopic mucosal resection (EMR) was performed. Histopathological examination of the EMR specimen revealed well-differentiated tubular adenocarcinoma developed in a hamartoma polyp. Immunohistochemical staining using anti-PTEN antibody showed that PTEN expression was completely deficient in the nuclei of carcinoma cells as well as majority of hamartoma cells, whereas a part of hamartoma cells showed PTEN nuclear expression. Furthermore, we applied the specimen to gene panel analysis and confirmed pGly127Arg (c379G > A) mutation present in PTEN gene. Helicobacter pylori (H. pylori) infection in the biopsied gastric specimen and immunohistochemically high expression of p16
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