Year 2021 / Volume 113 / Number 6
Letter
Primary gastric adenocarcinoma in a patient with Peutz-Jeghers syndrome

474-475

DOI: 10.17235/reed.2020.7323/2020

Olga Ortega Lobete, Raquel Díaz Ruiz, Leticia Pérez Carazo,

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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References
Restaa N, Pierannunziob D, Lenato GN et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study. Dig Liver Dis 2013; 45: 606–611
Katabathina VS, Menias CO, Khanna L et al. Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management. RadioGraphics 2019; 39:1280–1301
Pérez-Cuadrado-Robles E, Pinho R, González B et al. Small bowel enteroscopy – A joint clinical guideline by the Spanish and Portuguese small-bowel study groups. Rev Esp Enferm Dig 2020; 112(4):309-318
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Ortega Lobete O, Díaz Ruiz R, Pérez Carazo L. Primary gastric adenocarcinoma in a patient with Peutz-Jeghers syndrome. 7323/2020


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Publication history

Received: 08/06/2020

Accepted: 11/08/2020

Online First: 27/11/2020

Published: 04/06/2021

Article Online First time: 172 days

Article editing time: 361 days


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