Intestinal polyposis syndromes: progress in understanding and treatment

Area of Science:

• Gastroenterology and Genetics
• Oncology

Background:

• Intestinal polyposis encompasses a group of inherited disorders characterized by numerous polyps in the gastrointestinal tract.
• These conditions significantly increase the risk of colorectal cancer and associated extraintestinal manifestations.

Purpose of the Study:

• To review recent advancements in the genetic basis, diagnosis, and treatment of intestinal polyposis syndromes.
• To highlight the impact of new molecular insights and technological innovations on patient management.

Main Methods:

• Review of current literature on genetic mutations, diagnostic modalities, and therapeutic strategies for intestinal polyposis.
• Analysis of recent findings in familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome (PJS).

Main Results:

• Identification of specific genetic alterations in patients with FAP lacking APC mutations.
• Discovery of the ENG gene in a subset of PJS patients, with proposed pathogenic mechanisms.
• Advancements in diagnostic tools, including capsule endoscopy.
• Improved surgical management with minimally invasive techniques.

Conclusions:

• While the genetic landscape of intestinal polyposis is complex, recent discoveries are filling knowledge gaps.
• Novel genetic targets and improved diagnostic and surgical approaches enhance the management of intestinal polyposis and its complications.
• Treatment for desmoid tumors, a severe extraintestinal manifestation, shows promise with new chemotherapy regimens.