Open AccessPRIMARY GASTRIC ADENOCARCINOMA IN PATIENT WITH PEUTZ-JEGHERS SYNDROME
Author(s) -
Olga Ortega Lobete,
Raquel Díaz Ruiz,
L Pérez Carazo
Publication year - 2020
Publication title -
revista española de enfermedades digestivas/revista española de enfermedades digestivas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.331
H-Index - 38
eISSN - 2340-4167
pISSN - 1130-0108
DOI - 10.17235/reed.2020.7323/2020
Subject(s) - medicine , peutz–jeghers syndrome , gastric adenocarcinoma , adenocarcinoma , gastroenterology , general surgery , cancer
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).