Publication: Sporadic Peutz-Jeghers Syndrome with Recurrent Intussusception and Malignant Change in Hamartomatous Polyps
Loading...
Date
2023
Journal Title
Indian Journal of Surgery
Journal ISSN
Volume Title
Publisher
Springer
Abstract
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. � 2022, Association of Surgeons of India.
Description
Keywords
Hamartoma-dysplasia-carcinoma sequence, Hamartomatous polyp, Peutz-Jeghers syndrome, Recurrent intussusception