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Updated: Nov 28, 2025
Author Spotlight: Advancing Early Detection and Treatment of Gastrointestinal Tumors
Published on: February 16, 2024
Primary gastric adenocarcinoma in a patient with Peutz-Jeghers syndrome
Olga Ortega Lobete1, Raquel Díaz Ruiz2, Leticia Pérez Carazo1
1Aparato Digestivo, Hospital General Universitario Gregorio Marañón, España.
Abstract:
We present the case of a 42-year-old female under study due to dyspepsia without response to empirical treatment, with perioral mucocutaneous pigmentation. A gastroscopy revealed a 5 cm gastric tumor in the antrum, as well as multiple sessile gastric and duodenal polyps smaller than 1 cm. Large-capacity forceps biopsies were obtained and a well-differentiated adenocarcinoma with gastric origin was diagnosed, with over expression of the HER2/neu without microsatellite instability in the context of a hamartomatous polyposis. The genomic study confirmed an alteration in the STK11 gene translated to a truncated protein product, compatible with a Peutz-Jeghers syndrome (PJS).
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