Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

Anne Marie Jelsig; John Gásdal Karstensen; Niels Jespersen; Zohreh Ketabi; Charlotte Lautrup; Karina Rønlund; Lone Sunde; Karin Wadt; Ole Thorlacius-Ussing; Niels Qvist

doi:10.1186/s13053-021-00197-8

Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

Hered Cancer Clin Pract. 2021 Oct 7;19(1):41. doi: 10.1186/s13053-021-00197-8.

Authors

Anne Marie Jelsig¹, John Gásdal Karstensen^{2

3}, Niels Jespersen², Zohreh Ketabi⁴, Charlotte Lautrup⁵, Karina Rønlund⁶, Lone Sunde⁵, Karin Wadt⁷, Ole Thorlacius-Ussing^{8

9}, Niels Qvist^{10

11}

Affiliations

¹ Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark. anne.marie.jelsig@regionh.dk.
² Danish Polyposis Registry, Gastrounit, Hvidovre Hospital, Hvidovre, Denmark.
³ Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
⁴ Department of Gynecology and Obstetrics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
⁵ Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
⁶ Department of Clinical Genetics, University Hospital of Southern Denmark, Vejle Hospital, Vejle, Denmark.
⁷ Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
⁸ Department of Gastrointestinal Surgery, Aalborg University Hospital, Aalborg, Denmark.
⁹ Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
¹⁰ Research Unit for Surgery, Odense University Hospital, Odense, Denmark.
¹¹ University of Southern Denmark, Odense, Denmark.

Abstract

Hereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polyposis syndromes have been known for decades, but the development in genetic technologies has allowed the identification of new syndromes.. The diagnosis entails surveillance from an early age, but universal guideline on how to manage and surveille these new syndromes are lacking. This paper represents a condensed version of the recent guideline (2020) from a working group appointed by the Danish Society of Medical Genetics and the Danish Society of Surgery on recommendations for the surveillance of patients with hereditary polyposis syndromes, including rare polyposis syndromes.

Keywords: Cancer; Genetics; Guideline; Hereditary; Management; Polyposis; Surveillance.

Publication types

Review