Sporadic Peutz-Jeghers Syndrome with Recurrent Intussusception and Malignant Change in Hamartomatous Polyps

Peutz-Jeghers syndrome (PJS) is a rare inherited autosomal dominant disease characterised by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. In up to 25% of cases, there is no family history of PJS (sporadic cases). Acute intestinal intussusception due to multiple polyps is the most common complication of PJS. PJS is associated with cancers of the gastrointestinal tract and in other organs. Adenocarcinoma arising in hamartomatous polyps is heavily debated. A 23-year-old gentleman presented with sporadic PJS with recurrent ileal intussusceptions and multifocal well-differentiated adenocarcinomas arising in the background of hamartomatous polyps following hamartoma-dysplasia-carcinoma sequence, which is herein discussed. The hamartoma-dysplasia-carcinoma sequence is one of the pathways of carcinogenesis within hamartomatous polyps in PJS.

Automated summary

Peutz-Jeghers syndrome is a rare inherited disease characterized by pigmentation of the skin and multiple polyps in the gastrointestinal tract. It is associated with cancers in the gastrointestinal tract and other organs.