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Author Spotlight: Advancing Early Detection and Treatment of Gastrointestinal Tumors
Published on: February 16, 2024
Peutz-Jeghers Syndrome With Malignant Transformation in a Hamartomatous Rectal Polyp: A Case Report
Omar Bahlaoui1,2, Anass Nadi1,2, Afafe Taiymi2
1Gastroenterology and Hepatology, Mohammed VI University of Health Sciences, Casablanca, MAR.
Abstract:
Peutz-Jeghers syndrome (PJS) is a rare hereditary condition characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyps. We describe the case of a 14-year-old girl who presented with rectal bleeding, in whom endoscopic evaluation revealed multiple hamartomatous polyps, including two large rectal lesions. Histopathological analysis showed areas of high-grade dysplasia and in situ carcinoma developing within a hamartomatous polyp. Although this syndrome is generally benign, affected individuals have a lifelong predisposition to gastrointestinal and extra-digestive malignancies. Malignant transformation during adolescence is exceptionally uncommon, highlighting the importance of early diagnosis and structured surveillance to reduce cancer risk.
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