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Gastric diffuse hamartomatous polyposis as unique manifestation of peutz-jeghers syndrome

J Ruiz-Tovar1, C Gamallo

  • 1Department of General and Digestive Surgery, General University Hospital Elche, Alicante, Spain.

Acta Chirurgica Belgica
|May 30, 2015
PubMed

Insights

This study reports a rare case of diffuse gastric polyposis, a type of Peutz-Jeghers polyposis, without other gastrointestinal involvement. Genetic analysis identified a mutation in the STK11 gene.

Area of Science:

  • Gastroenterology
  • Genetics
  • Pathology

Background:

  • Peutz-Jeghers-type hamartomatous polyps typically affect the small intestine but can occur in the stomach and large bowel.
  • Gastric hamartomatous polyps often coexist with polyps in other gastrointestinal locations.
  • Diffuse gastric polyposis without other gastrointestinal involvement is exceptionally rare.

Observation:

  • A 41-year-old woman presented with recurrent hematemesis and anemia.
  • Upper endoscopy revealed diffuse hamartomatous polyps throughout the stomach; no other polyps were detected.
  • Biopsy confirmed hamartomatous polyps, and pathology after total gastrectomy showed diffuse gastric hamartomatous polyposis.

Findings:

  • The patient's condition was diagnosed as Peutz-Jeghers polyposis.
  • Genetic analysis identified a missense mutation in the serine/threonine kinase STK11 gene.
  • This genetic finding is consistent with Peutz-Jeghers syndrome.

Implications:

  • This case highlights the possibility of isolated diffuse gastric polyposis in Peutz-Jeghers syndrome.
  • Understanding the genetic basis (STK11 mutation) is crucial for diagnosis and management.
  • Further research may elucidate the specific mechanisms leading to gastric-predominant polyposis.
Abstract

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