Opinion Review
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Jan 27, 2023; 15(1): 1-8
Published online Jan 27, 2023. doi: 10.4240/wjgs.v15.i1.1
Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights
Frederik Rønne Pachler, Anna Byrjalsen, John Gásdal Karstensen, Anne Marie Jelsig
Frederik Rønne Pachler, John Gásdal Karstensen, Danish Polyposis Registry, Gastrounit, Copenhagen University Hospital - Amager and Hvidovre Hospital, Hvidovre 2650, Denmark
Anna Byrjalsen, Anne Marie Jelsig, Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen 2100, Denmark
John Gásdal Karstensen, Department of Clinical Medicine, University of Copenhagen, Hvidovre 2650, Denmark
Author contributions: Pachler FR and Jelsig AM drafted the manuscript; Pachler FR, Byrjalsen A, Karstensen JG and Jelsig AM provided revisions within their expert fields; Byrjalsen A drew up figures and tables.
Conflict-of-interest statement: Karstensen JG is a consultant for Snipr Biome. Pachler FR, Byrjalsen A and Jelsig AM have no conflicts of interest to declare.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Frederik Rønne Pachler, MD, PhD, Surgeon, Danish Polyposis Registry, Gastrounit, Copenhagen University Hospital - Amager and Hvidovre Hospital, Kettegård Allé 30, Hvidovre 2650, Denmark. frederik.roenne.pachler.01@regionh.dk
Received: October 9, 2022
Peer-review started: October 9, 2022
First decision: November 3, 2022
Revised: November 18, 2022
Accepted: January 3, 2023
Article in press: January 3, 2023
Published online: January 27, 2023
Core Tip

Core Tip: Genetic technologies and testing have evolved immensely over the past decades allowing for tailored surveillance of patients with hereditary polyposis syndromes. These include endoscopic follow-up and surgery when endoscopic management is no longer possible. Chemopreventive drugs may serve as a cornerstone in future management, but it has yet to show consistent prevention of disease progression.