Massive gastric polyposis in Peutz-Jeghers Syndrome – a case report

Abstract

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder equally affecting males and females with an incidence of 1/25,000 – 1/300,000 births. It is characterised by the development of hamartomatous polyps of the digestive tract, a lifetime risk of colorectal cancer and other gastrointestinal malignancies, as well as non-gastrointestinal cancers such as breast and ovarian cancers. Intestinal polyposis is very common in PJS, however, gastric polyps occur in less than 20% of patients with massive polyposis rarely reported. We report a case of massive gastric polyposis in an elderly PJS patient with concurrent and prior intestinal polyps and multiple occurrences of intussusception. The gastric polyps were present in the fundus through to the gastro-eosophageal junction. Microscopy demonstrated arborising branches of smooth muscle covered by disorganised mucosa – consistent with PJS polyps. The largest gastric polyp showed architectural complexity and nuclear atypia suggestive of high-grade dysplasia. An intrapolyp adenocarcinoma had been biopsied from the gastric fundus two months prior but no residual invasion was present in the gastrectomy specimen. It is important for pathologists to be aware of the association between PJS and gastric polyps in which dysplasia and malignancy can develop.