Pachler FR, Byrjalsen A, Karstensen JG, Jelsig AM. Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights. World J Gastrointest Surg 2023; 15(1): 1-8 [PMID: 36741069 DOI: 10.4240/wjgs.v15.i1.1]
Corresponding Author of This Article
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
Research Domain of This Article
Surgery
Article-Type of This Article
Opinion Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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
Abstract
In this editorial we present an overview and insights of the management of hereditary polyposis syndromes. The primary focus was on familial adenomatous polyposis, juvenile polyposis syndrome and Peutz-Jegher syndrome. Genetic testing has become increasingly available and is easier than ever to integrate into clinical practice. Furthermore, several genes have been added to the expanding list of genes associated with hereditary polyposis syndromes, allowing for precise diagnostics and tailored follow-up. Endoscopic evaluation of patients with hereditary polyposis syndromes is paramount in the surveillance strategies. Current endoscopic procedures include both diagnostic procedures and surveillance as well as therapeutic interventions. Recommendations for endoscopic procedures in the upper and lower gastrointestinal canal were described. Surgery is still a key component in the management of patients with hereditary polyposis syndromes. The increased cancer risk in these patients often render prophylactic procedures or intended curative procedures in the case of cancer development. Surgical interventions in the upper and lower gastrointestinal canal were described with relevant considerations. Development of chemopreventive medications is ongoing. Few drugs have been investigated, including nonsteroidal anti-inflammatory drugs. It has been demonstrated that cyclooxygenase-2 inhibitors may lower the number of polyps. Other medications are currently under investigation, but none have, to date, consistently been able to prevent development of disease.
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.
