Background Gastrointestinal polyposis syndromes represent the second most common genetically determined cause of colorectal cancer after Lynch syndrome. They are typically caused by germline mutations in tumor suppressor genes or DNA repair genes and are associated with a markedly increased risk of colorectal as well as frequently extracolonic malignancies. Early clinical recognition, targeted genetic evaluation, and coordinated interdisciplinary care are essential for effective cancer prevention and long-term survival. Objectives This review provides a clinically oriented update on gastrointestinal polyposis syndromes, focusing on clinical presentation, diagnostic work-up, risk stratification, and management. Particular emphasis is placed on recent developments in endoscopic surveillance, surgical strategies, and the role of specialized centers. Genetic diagnostics are addressed as an integral component of differential diagnosis and preventive care. Materials and methods A systematic literature review was conducted on gastrointestinal polyposis syndromes covering the period from 2020–2025. Included were original articles, reviews, and clinical guidelines (European Society of Gastrointestinal Endoscopy [ESGE], European Hereditary Tumor Group [EHTG], British Society of Gastroenterolgy [BSG], German Society for Gastroenterology, Digestive and Metabolic Diseases [DGVS], and the German S3 guideline on colorectal cancer), with a focus on clinical management, diagnostic approaches, and genetic evaluation. Results In addition to familial adenomatous polyposis (FAP), several other subtypes can be identified, differing in inheritance patterns, phenotypic expression, and associated tumor spectra. Genetic testing enables syndromic classification but may not provide definitive evidence in all clinically apparent cases. International guidelines increasingly advocate individualized, risk-adapted surveillance strategies and define clear indications for prophylactic surgery. Given the complexity of diagnosis and management, all patients with polyposis syndrome should be cared for in interdisciplinary expert centers. Conclusion The clinical and genetic heterogeneity of polyposis syndromes necessitates structured and specialized management. While genetic testing forms a critical basis for prevention and family counseling, therapeutic decisions are primarily guided by clinical findings. Personalized surveillance and treatment strategies, as outlined in current guidelines, are key to ensuring high-quality care.

Gastrointestinale Polyposissyndrome – Update 2025

期刊论文
发表日期：

2025年8月20日

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A.-S. Layritz,
R. Hüneburg,
I. Spier,
S. Aretz

摘要

Background

Gastrointestinal polyposis syndromes represent the second most common genetically determined cause of colorectal cancer after Lynch syndrome. They are typically caused by germline mutations in tumor suppressor genes or DNA repair genes and are associated with a markedly increased risk of colorectal as well as frequently extracolonic malignancies. Early clinical recognition, targeted genetic evaluation, and coordinated interdisciplinary care are essential for effective cancer prevention and long-term survival.

Objectives

This review provides a clinically oriented update on gastrointestinal polyposis syndromes, focusing on clinical presentation, diagnostic work-up, risk stratification, and management. Particular emphasis is placed on recent developments in endoscopic surveillance, surgical strategies, and the role of specialized centers. Genetic diagnostics are addressed as an integral component of differential diagnosis and preventive care.

Materials and methods

A systematic literature review was conducted on gastrointestinal polyposis syndromes covering the period from 2020–2025. Included were original articles, reviews, and clinical guidelines (European Society of Gastrointestinal Endoscopy [ESGE], European Hereditary Tumor Group [EHTG], British Society of Gastroenterolgy [BSG], German Society for Gastroenterology, Digestive and Metabolic Diseases [DGVS], and the German S3 guideline on colorectal cancer), with a focus on clinical management, diagnostic approaches, and genetic evaluation.

Results

In addition to familial adenomatous polyposis (FAP), several other subtypes can be identified, differing in inheritance patterns, phenotypic expression, and associated tumor spectra. Genetic testing enables syndromic classification but may not provide definitive evidence in all clinically apparent cases. International guidelines increasingly advocate individualized, risk-adapted surveillance strategies and define clear indications for prophylactic surgery. Given the complexity of diagnosis and management, all patients with polyposis syndrome should be cared for in interdisciplinary expert centers.

Conclusion

The clinical and genetic heterogeneity of polyposis syndromes necessitates structured and specialized management. While genetic testing forms a critical basis for prevention and family counseling, therapeutic decisions are primarily guided by clinical findings. Personalized surveillance and treatment strategies, as outlined in current guidelines, are key to ensuring high-quality care.