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<p>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 &gt; A) mutation present in PTEN gene. Helicobacter pylori (H. pylori) infection in the biopsied gastric specimen and immunohistochemically high expression of p16<sup>INK4a</sup> and p53 in cancer cells were detected. In addition to PTEN mutation, these changes may contribute to the gastric carcinogenesis of this patient. Although only few cases of gastric carcinoma in CS patients were reported, our case highlights the importance of regular and careful endoscopic observation of hamartoma polyps to detect early-gastric carcinoma in those with CS.</p>

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PTEN negative adenocarcinoma developed in a gastric hamartoma polyp of a Cowden syndrome patient

  • 期刊论文

  • 发表日期：

    2026年7月3日

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  • Jumpei Suzuki,
  • Bunichiro Kato,
  • Hiro-o Matsushita,
  • Kenjiro Yoshikawa,
  • Haruka Yorozu,
  • Takeya Edagawa,
  • Hiroki Koshiishi,
  • Takuo Tokairin,
  • Masayuki Yoshida,
  • Katsuhiko Enomoto

摘要

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 p16INK4a and p53 in cancer cells were detected. In addition to PTEN mutation, these changes may contribute to the gastric carcinogenesis of this patient. Although only few cases of gastric carcinoma in CS patients were reported, our case highlights the importance of regular and careful endoscopic observation of hamartoma polyps to detect early-gastric carcinoma in those with CS.