[Digestive polyposis. Retrospective study of 20 cases]

Area of Science:

• Gastroenterology
• Oncology
• Genetics

Context:

• Digestive polyposis syndromes, including familial adenomatous polyposis (FAP), juvenile polyposis syndrome (JPS), and Peutz-Jeghers syndrome, are autosomal dominant disorders.
• A study was conducted at MT Maarmouri's Hospital, Nabeul city, involving 20 patients from pathology, surgery, and gastroenterology departments.

Purpose:

• To evaluate the management of digestive polyposis.
• To analyze the clinical presentation and outcomes of patients with FAP, JPS, and Peutz-Jeghers syndrome.

Summary:

• The study identified 15 cases of adenomatous polyposis, including 2 family groups, 3 members with JPS, and 2 cases of Peutz-Jeghers syndrome.
• Out of 15 adenomatous polyposis patients, 11 had colonic adenocarcinoma. FAP is characterized by extensive colorectal involvement and extra-colonic manifestations, carrying a 100% risk of colon cancer.
• JPS involves numerous juvenile polyps, typically before age 20, with a low risk of cancer progression. Peutz-Jeghers syndrome presents with hamartomatous polyps, pigmentation, and increased risk of extradigestive cancers.

Impact:

• This study underscores the critical importance of early detection and management of FAP due to its high risk of colorectal cancer.
• Understanding the distinct characteristics of FAP, JPS, and Peutz-Jeghers syndrome aids in tailored patient care and risk stratification.
• The findings contribute to the clinical knowledge base for managing hereditary polyposis syndromes and their associated oncological risks.