Download PDF
CC BY-NC-ND 4.0 · Endosc Int Open 2023; 11(04): E386-E393
DOI: 10.1055/a-2011-1933
Innovation forum

Personalized endoscopic surveillance and intervention protocols for patients with familial adenomatous polyposis: the European FAP Consortium strategy

Arthur S. Aelvoet
 1   Amsterdam UMC location University of Amsterdam, Department of Gastroenterology and Hepatology, Amsterdam, the Netherlands
 2   Cancer Center Amsterdam, Amsterdam, the Netherlands
 3   Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands
,
Maria Pellisé
 4   Department of Gastroenterology, Hospital Clínic de Barcelona, Institut dʼInvestigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain
,
Barbara A.J. Bastiaansen
 1   Amsterdam UMC location University of Amsterdam, Department of Gastroenterology and Hepatology, Amsterdam, the Netherlands
 2   Cancer Center Amsterdam, Amsterdam, the Netherlands
 3   Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands
,
Monique E. van Leerdam
 5   Department of Gastrointestinal Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands
 6   Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, the Netherlands
,
Rodrigo Jover
 7   Servicio de Medicina Digestiva, Hospital General Universitario de Alicante, Instituto de Investigación Biomédica ISABIAL, Universidad Miguel Hernández, Alicante, Spain
,
Francesc Balaguer
 4   Department of Gastroenterology, Hospital Clínic de Barcelona, Institut dʼInvestigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain
,
Michal F. Kaminski
 8   Department of Oncological Gastroenterology and Department of Cancer Prevention, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
,
John G. Karstensen
 9   Danish Polyposis Registry. Gastrounit, Copenhagen University Hospital – Amager and Hvidovre, Hvidovre, Denmark
10   Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
,
Jean-Christophe Saurin
11   Gastroenterology Unit, Hospices Civils de Lyon, Hôpital E. Herriot, Lyon, France.
,
Roel Hompes
 2   Cancer Center Amsterdam, Amsterdam, the Netherlands
12   Amsterdam UMC location University of Amsterdam, Department of Surgery, Amsterdam, the Netherlands.
,
Patrick M.M. Bossuyt
13   Amsterdam UMC location University of Amsterdam, Department of Epidemiology and Data Science, Amsterdam, the Netherlands
,
Luigi Ricciardiello
14   Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
15   IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di SantʼOrsola, Bologna, Italy
,
Andrew Latchford
16   Polyposis Registry, St Markʼs Hospital, Harrow, United Kingdom
17   Department of Surgery and Cancer, Imperial College, London, United Kingdom
,
Evelien Dekker
 1   Amsterdam UMC location University of Amsterdam, Department of Gastroenterology and Hepatology, Amsterdam, the Netherlands
 2   Cancer Center Amsterdam, Amsterdam, the Netherlands
 3   Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands
,
European FAP Consortium › Author Affiliationshttp://dx.doi.org/10.13039/501100004622

TRIAL REGISTRATION: Prospective multi-center study NCT04678011 and NCT04677998 at ClinicalTrials.gov (http://www.clinicaltrials.gov/)
› Further Information
Also available at
   Permissions and Reprints

Abstract

Background and study aims Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer. Endoscopy has advanced significantly in recent years, including both detection technology as well as treatment options. For the lower gastrointestinal tract, current guidelines do not provide clear recommendations for surveillance intervals. Furthermore, the Spigelman staging system for duodenal polyposis has its limitations. We present a newly developed personalized endoscopic surveillance strategy for the lower and upper gastrointestinal tract, aiming to improve the care for patients with FAP. We aim to inform centers caring for FAP patients and encourage the discussion on optimizing endoscopic surveillance and treatment in this high-risk population.

Methods The European FAP Consortium, consisting of endoscopists with expertise in FAP, collaboratively developed new surveillance protocols. The proposed strategy was consensus-based and a result of several consortium meetings, discussing current evidence and limitations of existing systems. This strategy provides clear indications for endoscopic polypectomy in the rectum, pouch, duodenum and stomach and defines new criteria for surveillance intervals. This strategy will be evaluated in a 5-year prospective study in nine FAP expert centers in Europe.

Results We present a newly developed personalized endoscopic surveillance and endoscopic treatment strategy for patients with FAP aiming to prevent cancer, optimize endoscopic resources and limit the number of surgical interventions. Following this new strategy, prospectively collected data in a large cohort of patients will inform us on the efficacy and safety of the proposed approaches.



Publication History

Received: 28 November 2022

Accepted after revision: 29 December 2022

Accepted Manuscript online:
11 January 2023

Article published online:
24 April 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Grover S, Kastrinos F, Steyerberg EW. et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012; 308: 485-492
    CrossrefPubMedGoogle Scholar
  • 2 Bussey HJR. Familial polyposis coli: family studies, histopathology, differential diagnosis and results of treatment. Baltimore: John Hopkins University Press; 1975
    Google Scholar
  • 3 Tudyka VN, Clark SK. Surgical treatment in familial adenomatous polyposis. Ann Gastroenterol 2012; 25: 201-206
    PubMedGoogle Scholar
  • 4 Church J, Burke C, McGannon E. et al. Risk of rectal cancer in patients after colectomy and ileorectal anastomosis for familial adenomatous polyposis: a function of available surgical options. Dis Colon Rectum 2003; 46: 1175-1181
    CrossrefPubMedGoogle Scholar
  • 5 Sinha A, Tekkis PP, Rashid S. et al. Risk factors for secondary proctectomy in patients with familial adenomatous polyposis. Br J Surg 2010; 97: 1710-1715
    CrossrefPubMedGoogle Scholar
  • 6 Pasquer A, Benech N, Pioche M. et al. Prophylactic colectomy and rectal preservation in FAP: systematic endoscopic follow-up and adenoma destruction changes natural history of polyposis. Endosc Int Open 2021; 9: E1014-e1022
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 Anele CC, Xiang J, Martin I. et al. Regular endoscopic surveillance and polypectomy is effective in managing rectal adenoma progression following colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis. Colorectal Dis 2021; 24: 277-283
    CrossrefPubMedGoogle Scholar
  • 8 Tajika M, Niwa Y, Bhatia V. et al. Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis. World J Gastroenterol 2013; 19: 6774-6783
    CrossrefPubMedGoogle Scholar
  • 9 Friederich P, de Jong AE, Mathus-Vliegen LM. et al. Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 1237-1242
    CrossrefPubMedGoogle Scholar
  • 10 Aelvoet AS, Roos VH, Bastiaansen BAJ. et al. Development of ileal adenomas after ileal pouch-anal anastomosis versus end ileostomy in patients with familial adenomatous polyposis. Gastrointest Endosc 2023; 97: 69-77.e1
    CrossrefPubMedGoogle Scholar
  • 11 Smith JC, Schäffer MW, Ballard BR. et al. Adenocarcinomas after prophylactic surgery for familial adenomatous polyposis. J Cancer Ther 2013; 4: 260-270
    CrossrefPubMedGoogle Scholar
  • 12 Worley GHT, Patsouras D, Sahnan K. et al. Ileal pouch excision: a contemporary observational cohort. Dis Colon Rectum 2019; 62: 454-462
    CrossrefPubMedGoogle Scholar
  • 13 van Leerdam ME, Roos VH, van Hooft JE. et al. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline. Endoscopy 2019; 51: 877-895
    Article in Thieme ConnectPubMedGoogle Scholar
  • 14 Monahan KJ, Bradshaw N, Dolwani S. et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 2020; 69: 411-444
    CrossrefPubMedGoogle Scholar
  • 15 Yang J, Gurudu SR, Koptiuch C. et al. American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointest Endosc 2020; 91: 963-982.e962
    CrossrefPubMedGoogle Scholar
  • 16 Björk J, Akerbrant H, Iselius L. et al. Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 2001; 121: 1127-1135
    CrossrefPubMedGoogle Scholar
  • 17 Bülow S, Christensen IJ, Højen H. et al. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis. Colorectal Dis 2012; 14: 947-952
    CrossrefPubMedGoogle Scholar
  • 18 Lepistö A, Kiviluoto T, Halttunen J. et al. Surveillance and treatment of duodenal adenomatosis in familial adenomatous polyposis. Endoscopy 2009; 41: 504-509
    Article in Thieme ConnectPubMedGoogle Scholar
  • 19 Wallace MH, Phillips RK. Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 1998; 85: 742-750
    CrossrefPubMedGoogle Scholar
  • 20 Groves CJ, Saunders BP, Spigelman AD. et al. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 2002; 50: 636-641
    CrossrefPubMedGoogle Scholar
  • 21 Ghorbanoghli Z, Bastiaansen BA, Langers AM. et al. Extracolonic cancer risk in Dutch patients with APC (adenomatous polyposis coli)-associated polyposis. J Med Genet 2018; 55: 11-14
    CrossrefPubMedGoogle Scholar
  • 22 Walsh RM, Augustin T, Aleassa EM. et al. Comparison of pancreas-sparing duodenectomy (PSD) and pancreatoduodenectomy (PD) for the management of duodenal polyposis syndromes. Surgery 2019; 166: 496-502
    CrossrefPubMedGoogle Scholar
  • 23 Aelvoet AS, Bastiaansen BAJ, Fockens P. et al. Pancreas-preserving total duodenectomy for advanced duodenal polyposis in patients with familial adenomatous polyposis: short and long-term outcomes. HPB (Oxford) 2022; 24: 1642-1650
    CrossrefPubMedGoogle Scholar
  • 24 Spigelman AD, Williams CB, Talbot IC. et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2: 783-785
    CrossrefPubMedGoogle Scholar
  • 25 Bulow S, Bjork J, Christensen IJ. et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004; 53: 381-386
    CrossrefPubMedGoogle Scholar
  • 26 Latchford AR, Neale KF, Spigelman AD. et al. Features of duodenal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2009; 7: 659-663
    CrossrefPubMedGoogle Scholar
  • 27 Thiruvengadam SS, Lopez R, OʼMalley M. et al. Spigelman stage IV duodenal polyposis does not precede most duodenal cancer cases in patients with familial adenomatous polyposis. Gastrointest Endosc 2019; 89: 345-354.e342
    CrossrefPubMedGoogle Scholar
  • 28 Mathus-Vliegen EM, Boparai KS, Dekker E. et al. Progression of duodenal adenomatosis in familial adenomatous polyposis: due to ageing of subjects and advances in technology. Fam Cancer 2011; 10: 491-499
    CrossrefPubMedGoogle Scholar
  • 29 Martin I, Roos VH, Anele C. et al. Gastric adenomas and their management in familial adenomatous polyposis. Endoscopy 2021; 53: 795-801
    Article in Thieme ConnectPubMedGoogle Scholar
  • 30 Roos VH, Bastiaansen BAJ, Dekker E. Gastric adenomas in familial adenomatous polyposis: you only see them when you know what to look for. Gastrointest Endosc 2018; 88: 403-405
    CrossrefPubMedGoogle Scholar
  • 31 Mankaney G, Leone P, Cruise M. et al. Gastric cancer in FAP: a concerning rise in incidence. Fam Cancer 2017; 16: 371-376
    CrossrefPubMedGoogle Scholar
  • 32 Leone PJ, Mankaney G, Sarvapelli S. et al. Endoscopic and histologic features associated with gastric cancer in familial adenomatous polyposis. Gastrointest Endosc 2019; 89: 961-968
    CrossrefPubMedGoogle Scholar
  • 33 Kallenberg FGJ, Bastiaansen BAJ, Dekker E. Cap-assisted forward-viewing endoscopy to visualize the ampulla of Vater and the duodenum in patients with familial adenomatous polyposis. Endoscopy 2017; 49: 181-185
    PubMedGoogle Scholar
  • 34 Hamada K, Takeuchi Y, Ishikawa H. et al. Safety of cold snare polypectomy for duodenal adenomas in familial adenomatous polyposis: a prospective exploratory study. Endoscopy 2018; 50: 511-517
    Article in Thieme ConnectPubMedGoogle Scholar
  • 35 Dang DT, Suresh S, Vance RB. et al. Outcomes of cold snare piecemeal EMR for nonampullary small-bowel adenomas larger than 1 cm: a retrospective study. Gastrointest Endosc 2022; 95: 1176-1182
    CrossrefPubMedGoogle Scholar
  • 36 Trivedi M, Klapheke R, Youssef F. et al. Comparison of cold snare and hot snare polypectomy for the resection of sporadic nonampullary duodenal adenomas. Gastrointest Endosc 2022; 96: 657-664.e652
    CrossrefPubMedGoogle Scholar
  • 37 Lynch PM, Morris JS, Wen S. et al. A proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc 2016; 84: 115-125.e114
    CrossrefPubMedGoogle Scholar
  • 38 Hurley JJ, Thomas LE, Walton SJ. et al. The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. Gastrointest Endosc 2018; 88: 665-673
    CrossrefPubMedGoogle Scholar
  • 39 Hüneburg R, Heling D, Kaczmarek DJ. et al. Dye chromoendoscopy leads to a higher adenoma detection in the duodenum and stomach in patients with familial adenomatous polyposis. Endosc Int Open 2020; 8: E1308-E1314
    Article in Thieme ConnectPubMedGoogle Scholar
  • 40 Dekker E, Boparai KS, Poley JW. et al. High resolution endoscopy and the additional value of chromoendoscopy in the evaluation of duodenal adenomatosis in patients with familial adenomatous polyposis. Endoscopy 2009; 41: 666-669
    Article in Thieme ConnectPubMedGoogle Scholar
  • 41 Matsumoto T, Esaki M, Fujisawa R. et al. Chromoendoscopy, narrow-band imaging colonoscopy, and autofluorescence colonoscopy for detection of diminutive colorectal neoplasia in familial adenomatous polyposis. Dis Colon Rectum 2009; 52: 1160-1165
    CrossrefPubMedGoogle Scholar
  • 42 Shinozaki S, Kobayashi Y, Hayashi Y. et al. Efficacy and safety of cold versus hot snare polypectomy for resecting small colorectal polyps: Systematic review and meta-analysis. Dig Endosc 2018; 30: 592-599
    CrossrefPubMedGoogle Scholar
  • 43 Moussata D, Napoleon B, Lepilliez V. et al. Endoscopic treatment of severe duodenal polyposis as an alternative to surgery for patients with familial adenomatous polyposis. Gastrointest Endosc 2014; 80: 817-825
    CrossrefPubMedGoogle Scholar
  • 44 Roos VH, Bastiaansen BA, Kallenberg FGJ. et al. Endoscopic management of duodenal adenomas in patients with familial adenomatous polyposis. Gastrointest Endosc 2021; 93: 457-466
    CrossrefPubMedGoogle Scholar
  • 45 Ramai D, Facciorusso A, Singh J. et al. Endoscopic management of ampullary adenomas in familial adenomatous polyposis syndrome: a systematic review with pooled analysis. Dig Dis Sci 2022; 67: 3220-3227
    CrossrefPubMedGoogle Scholar
  • 46 Jaganmohan S, Lynch PM, Raju RP. et al. Endoscopic management of duodenal adenomas in familial adenomatous polyposis -- a single-center experience. Dig Dis Sci 2012; 57: 732-737
    CrossrefPubMedGoogle Scholar
  • 47 Moss A, Bourke MJ, Williams SJ. et al. Endoscopic mucosal resection outcomes and prediction of submucosal cancer from advanced colonic mucosal neoplasia. Gastroenterology 2011; 140: 1909-1918
    CrossrefPubMedGoogle Scholar
  • 48 Navaneethan U, Lourdusamy D, Mehta D. et al. Endoscopic resection of large sporadic non-ampullary duodenal polyps: efficacy and long-term recurrence. Surg Endosc 2014; 28: 2616-2622
    CrossrefPubMedGoogle Scholar
  • 49 Mehta NA, Shah RS, Yoon J. et al. Risks, benefits, and effects on management for biopsy of the papilla in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2021; 19: 760-767
    CrossrefPubMedGoogle Scholar
  • 50 Laleman W, Verreth A, Topal B. et al. Endoscopic resection of ampullary lesions: a single-center 8-year retrospective cohort study of 91 patients with long-term follow-up. Surg Endosc 2013; 27: 3865-3876
    CrossrefPubMedGoogle Scholar
  • 51 Kimchi NA, Mindrul V, Broide E. et al. The contribution of endoscopy and biopsy to the diagnosis of periampullary tumors. Endoscopy 1998; 30: 538-543
    Article in Thieme ConnectPubMedGoogle Scholar