Practice Guideline

. 2024 May 3;111(5):znae070.

doi: 10.1093/bjs/znae070.

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Gloria Zaffaroni^{1

2}, Alessandro Mannucci³, Laura Koskenvuo⁴, Borja de Lacy⁵, Anna Maffioli^{2

6}, Tanya Bisseling⁷, Elizabeth Half⁸, Giulia Martina Cavestro³, Laura Valle^{9

10}, Neil Ryan¹¹, Stefan Aretz¹², Karen Brown¹³, Francesco Buttitta^{14

15}, Fatima Carneiro¹⁶, Oonagh Claber¹⁷, Ruth Blanco-Colino^{18

19}, Maxime Collard²⁰, Emma Crosbie²¹, Miguel Cunha²², Triantafyllos Doulias^{23

24

25}, Christina Fleming²⁶, Henriette Heinrich²⁷, Robert Hüneburg^{28

29}, Julie Metras²⁰, Iris Nagtegaal³⁰, Ionut Negoi³¹, Maartje Nielsen³², Gianluca Pellino^{18

19

33}, Luigi Ricciardiello^{14

15}, Abdurrahman Sagir¹, Luis Sánchez-Guillén^{34

35}, Toni T Seppälä^{4

36

37

38}, Peter Siersema⁷, Benedikt Striebeck³⁹, Julian R Sampson⁴⁰, Andrew Latchford^{41

42}, Yann Parc²⁰, John Burn⁴³, Gabriela Möslein¹

Affiliations

¹ Center for Hereditary Tumors, Bethesda Hospital, Duisburg, Germany.
² Faculty of Medicine and Surgery, University of Milan, Milan, Italy.
³ Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy.
⁴ Department of Gastroenterological Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
⁵ Department of Gastrointestinal Surgery, Hospital Clinic of Barcelona, Barcelona, Spain.
⁶ Department of General Surgery, Sacco Hospital, ASST Fatebenefratelli Sacco, Milan, Italy.
⁷ Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
⁸ Cancer Prevention and Hereditary GI Cancer Unit, Rambam Health Care Campus, Haifa, Israel.
⁹ Hereditary Cancer Program, Catalan Institute of Oncology, Oncobell Program, IDIBELL, Barcelona, Spain.
¹⁰ Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
¹¹ The College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, UK.
¹² Institute of Human, Genetics, Medical Faculty, University of Bonn and National Center for Hereditary Tumour Syndromes, University Hospital Bonn, Bonn, Germany.
¹³ Leicester Cancer Research Centre, University of Leicester, Leicester, UK.
¹⁴ Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
¹⁵ IRCCS University Hospital of Bologna, Policlinico di Sant'Orsola, Bologna, Italy.
¹⁶ Faculty of Medicine of Porto University, Centro Hospitalar Universitário de São João, Ipatimup, Porto, Portugal.
¹⁷ Department of Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne, UK.
¹⁸ Department of Gastrointestinal Surgery, Vall d'Hebron University Hospital, Barcelona, Spain.
¹⁹ Universitat Autònoma de Barcelona, Barcelona, Spain.
²⁰ Department of Digestive Surgery, Hôpital Saint-Antoine, Sorbonne University, APHP, Paris, France.
²¹ Division of Cancer Sciences, University of Manchester, Manchester, UK.
²² Department of Surgery, Algarve Universitary Hospital Center, Colorectal SurgeryGroup, Portimao, Portugal.
²³ Department of Colorectal Surgery, Colchester Hospital, East Suffolk and North Essex NHS Foundation Trust, Colchester, UK.
²⁴ Colorectal Surgery Department, Kettering Hospital, University Hospitals of Northamptonshire, Kettering, Northamptonshire, UK.
²⁵ Department of Genetics and Genome Biology, Honorary Lecturer in the Leicester Cancer Research Centre, Leicester, UK.
²⁶ Department of Colorectal Surgery, University Hospital Limerick, Limerick, Ireland.
²⁷ Department for Gastroenterology and Hepatology, Clarunis Universitäres Bauchzentrum, Universitätsspital Basel, Basel, Switzerland.
²⁸ Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany.
²⁹ National Center for Hereditary Tumour Syndromes, University Hospital Bonn, Bonn, Germany.
³⁰ Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
³¹ Department of General Surgery, Carol Davila University of Medicine and Pharmacy Bucharest, Emergency Hospital of Bucharest, Bucharest, Romania.
³² Clinical Genetics Department, Leiden University Medical Center, Leiden, The Netherlands.
³³ Department of Advanced Medical and Surgical Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
³⁴ Department of Gastrointestinal Surgery, Elche General University Hospital, Elche, Alicante, Spain.
³⁵ Miguel Hernández University, Elche, Spain.
³⁶ Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland.
³⁷ Faculty of Medicine and Health Technology, University of Tampere and TAYS Cancer Centre, Tampere, Finland.
³⁸ iCAN Precision Medicine Flagship, University of Helsinki, Helsinki, Finland.
³⁹ Support Group Polyposis Coli e.V., FAP Patient, Germany.
⁴⁰ Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK.
⁴¹ Polyposis Registry, St Mark's Hospital, Harrow, UK.
⁴² Department of Surgery and Cancer, Imperial College, London, UK.
⁴³ Newcastle University Translational and Clinical Research Institute, Centre for Life, Newcastle upon Tyne, UK.

PMID: 38722804
PMCID: PMC11081080
DOI: 10.1093/bjs/znae070

Practice Guideline

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Gloria Zaffaroni et al. Br J Surg. 2024.

. 2024 May 3;111(5):znae070.

doi: 10.1093/bjs/znae070.

Authors

Affiliations

¹ Center for Hereditary Tumors, Bethesda Hospital, Duisburg, Germany.
² Faculty of Medicine and Surgery, University of Milan, Milan, Italy.
³ Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy.
⁴ Department of Gastroenterological Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
⁵ Department of Gastrointestinal Surgery, Hospital Clinic of Barcelona, Barcelona, Spain.
⁶ Department of General Surgery, Sacco Hospital, ASST Fatebenefratelli Sacco, Milan, Italy.
⁷ Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
⁸ Cancer Prevention and Hereditary GI Cancer Unit, Rambam Health Care Campus, Haifa, Israel.
⁹ Hereditary Cancer Program, Catalan Institute of Oncology, Oncobell Program, IDIBELL, Barcelona, Spain.
¹⁰ Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
¹¹ The College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, UK.
¹² Institute of Human, Genetics, Medical Faculty, University of Bonn and National Center for Hereditary Tumour Syndromes, University Hospital Bonn, Bonn, Germany.
¹³ Leicester Cancer Research Centre, University of Leicester, Leicester, UK.
¹⁴ Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
¹⁵ IRCCS University Hospital of Bologna, Policlinico di Sant'Orsola, Bologna, Italy.
¹⁶ Faculty of Medicine of Porto University, Centro Hospitalar Universitário de São João, Ipatimup, Porto, Portugal.
¹⁷ Department of Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne, UK.
¹⁸ Department of Gastrointestinal Surgery, Vall d'Hebron University Hospital, Barcelona, Spain.
¹⁹ Universitat Autònoma de Barcelona, Barcelona, Spain.
²⁰ Department of Digestive Surgery, Hôpital Saint-Antoine, Sorbonne University, APHP, Paris, France.
²¹ Division of Cancer Sciences, University of Manchester, Manchester, UK.
²² Department of Surgery, Algarve Universitary Hospital Center, Colorectal SurgeryGroup, Portimao, Portugal.
²³ Department of Colorectal Surgery, Colchester Hospital, East Suffolk and North Essex NHS Foundation Trust, Colchester, UK.
²⁴ Colorectal Surgery Department, Kettering Hospital, University Hospitals of Northamptonshire, Kettering, Northamptonshire, UK.
²⁵ Department of Genetics and Genome Biology, Honorary Lecturer in the Leicester Cancer Research Centre, Leicester, UK.
²⁶ Department of Colorectal Surgery, University Hospital Limerick, Limerick, Ireland.
²⁷ Department for Gastroenterology and Hepatology, Clarunis Universitäres Bauchzentrum, Universitätsspital Basel, Basel, Switzerland.
²⁸ Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany.
²⁹ National Center for Hereditary Tumour Syndromes, University Hospital Bonn, Bonn, Germany.
³⁰ Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
³¹ Department of General Surgery, Carol Davila University of Medicine and Pharmacy Bucharest, Emergency Hospital of Bucharest, Bucharest, Romania.
³² Clinical Genetics Department, Leiden University Medical Center, Leiden, The Netherlands.
³³ Department of Advanced Medical and Surgical Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
³⁴ Department of Gastrointestinal Surgery, Elche General University Hospital, Elche, Alicante, Spain.
³⁵ Miguel Hernández University, Elche, Spain.
³⁶ Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland.
³⁷ Faculty of Medicine and Health Technology, University of Tampere and TAYS Cancer Centre, Tampere, Finland.
³⁸ iCAN Precision Medicine Flagship, University of Helsinki, Helsinki, Finland.
³⁹ Support Group Polyposis Coli e.V., FAP Patient, Germany.
⁴⁰ Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK.
⁴¹ Polyposis Registry, St Mark's Hospital, Harrow, UK.
⁴² Department of Surgery and Cancer, Imperial College, London, UK.
⁴³ Newcastle University Translational and Clinical Research Institute, Centre for Life, Newcastle upon Tyne, UK.

PMID: 38722804
PMCID: PMC11081080
DOI: 10.1093/bjs/znae070

Erratum in

Corrigendum to: Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
[No authors listed] [No authors listed] Br J Surg. 2024 Oct 1;111(10):znae263. doi: 10.1093/bjs/znae263. Br J Surg. 2024. PMID: 39388583 Free PMC article. No abstract available.

Abstract

Background: Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers.

Methods: A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%).

Results: One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes.

Conclusion: These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.

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Figures

**Fig. 1**
Endoscopic surveillance and management for FAP patients APC, adenomatous polyposis coli; FAP, familial adenomatous polyposis; HGIEN, high-grade intraepithelial neoplasia.

**Fig. 2**
Surgical strategy for FAP patients FAP, familial adenomatous polyposis; IPAA, ileal pouch anal anastomosis; IRA, ileorectal anastomosis.

**Fig. 3**
Flowchart for post-surgical surveillance in IRA a and IPAA b IPAA, ileal pouch anal anastomosis; IRA, ileorectal anastomosis.

**Fig. 4**
Surveillance intervals according to duodenal findings

**Fig. 5**
Surveillance intervals according to gastric findings EUS, endoscopic ultrasound.

**Fig. 6**
Proposed endoscopic management of gastric, duodenal, and papillary lesions

**Fig. 7**
**Management algorithm for intra-abdominal desmoids with air-fluid level; proposed by Bonvalot**

See this image and copyright information in PMC

References

1. Arnold M, Abnet CC, Neale RE, Vignat J, Giovannucci EL, McGlynn KAet al. . Global burden of 5 major types of gastrointestinal cancer. Gastroenterology 2020;159:335–349.e15 - PMC - PubMed
1. Sung H, Ferlay J, Siegel RRL, Laversanne M, Soerjomataram I, Jemal Aet al. . Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2021;71:209–249 - PubMed
1. Arnold M, Sierra MS, Laversanne M, Soerjomataram I, Jemal A, Bray F. Global patterns and trends in colorectal cancer incidence and mortality. Gut 2017;66:683–691 - PubMed
1. Kastrinos F, Samadder NJ, Burt RW. Use of family history and genetic testing to determine risk of colorectal cancer. Gastroenterology 2020;158:389–403 - PubMed
1. Lowery JT, Ahnen DJ, Schroy PC, Hampel H, Baxter N, Boland CRet al. . Understanding the contribution of family history to colorectal cancer risk and its clinical implications: a state-of-the-science review. Cancer 2016;122:2633–2645 - PMC - PubMed

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Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Affiliations

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Authors

Affiliations

Erratum in

Abstract

Figures

References

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous