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Endoscopy 2019; 51(09): 877-895
DOI: 10.1055/a-0965-0605
Guideline
© Georg Thieme Verlag KG Stuttgart · New York

Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline

Monique E. van Leerdam
 1   Department of Gastroenterology and Hepatology, Netherlands Cancer Institute, Amsterdam, The Netherlands
 2   Department of Gastroenterology and Hepatology, Leiden University Medical Center and Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
,
Victorine H. Roos
 3   Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands
,
Jeanin E. van Hooft
 3   Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands
,
Evelien Dekker
 3   Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands
,
Rodrigo Jover
 4   Department of Gastroenterology, Hospital General Universitario de Alicante, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, Spain
,
Michal F. Kaminski
 5   Cancer Prevention, The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland
 6   Gastroenterology, Hepatology and Clinical Oncology, Medical Centre for Postgraduate Education, Warsaw, Poland
 7   Department of Health Management and Health Economics, University of Oslo, Oslo, Norway
,
Andrew Latchford
 8   Polyposis Registry, St. Mark's Hospital, Harrow, United Kingdom
 9   Department of Surgery and Cancer, Imperial College London, London, United Kingdom
,
Helmut Neumann
10   Department of Medicine I, University Medical Center Mainz, Mainz, Germany
,
Maria Pellisé
11   Gastroenterology Department, Hospital Clínic de Barcelona, Barcelona, Spain
12   Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
,
Jean-Christophe Saurin
13   Gastroenterology and Endoscopy Unit, Hospices Civils de Lyon, Hôpital E. Herriot, Lyon, France
,
Pieter J. Tanis
14   Department of Surgery, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands
,
Anja Wagner
15   Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
,
Francesc Balaguer
11   Gastroenterology Department, Hospital Clínic de Barcelona, Barcelona, Spain
12   Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
,
Luigi Ricciardiello
16   Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
› Author Affiliations
Further Information

Publication History

Publication Date:
23 July 2019 (online)

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Main Recommendations

ESGE recommends that individuals with hereditary gastrointestinal polyposis syndromes should be surveilled in dedicated units that provide monitoring of compliance and endoscopic performance measures.

Strong recommendation, moderate quality of evidence, level of agreement 90 %.

ESGE recommends performing esophagogastroduodenoscopy, small-bowel examination, and/or colonoscopy earlier than the planned surveillance procedure if a patient is symptomatic.

Strong recommendation, low quality of evidence, level of agreement 100 %.

Appendix 1s

 

  • References

  • 1 Bray F, Ferlay J, Soerjomataram I. et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2018; 68: 394-424
    CrossrefPubMedSearch in Google Scholar
  • 2 Lichtenstein P, Holm NV, Verkasalo PK. et al. Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland. NEJM 2000; 343: 78-85
    CrossrefPubMedSearch in Google Scholar
  • 3 Jasperson KW, Tuohy TM, Neklason DW. et al. Hereditary and familial colon cancer. Gastroenterology 2010; 138: 2044-2058
    CrossrefPubMedSearch in Google Scholar
  • 4 Bussey HJR. Familial polyposis coli: family studies, histopathology, differential diagnosis, and results of treatment. Baltimore: Johns Hopkins University Press; 1975
    Search in Google Scholar
  • 5 Burt RW, Leppert MF, Slattery ML. et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004; 127: 444-451
    CrossrefPubMedSearch in Google Scholar
  • 6 Nielsen M, Morreau H, Vasen HF. et al. MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol 2011; 79: 1-16
    CrossrefPubMedSearch in Google Scholar
  • 7 Utsunomiya J, Gocho H, Miyanaga T. et al. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 1975; 136: 71-82
    PubMedSearch in Google Scholar
  • 8 Hearle N, Schumacher V, Menko FH. et al. Frequency and spectrum of cancers in the Peutz–Jeghers syndrome. Clin Cancer Res 2006; 12: 3209-3215
    CrossrefPubMedSearch in Google Scholar
  • 9 van Lier MG, Wagner A, Mathus-Vliegen EM. et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 2010; 105: 1258-1264 ; author reply 1265
    CrossrefPubMedSearch in Google Scholar
  • 10 Jass JR, Williams CB, Bussey HJ. et al. Juvenile polyposis – a precancerous condition. Histopathology 1988; 13: 619-630
    PubMedSearch in Google Scholar
  • 11 Burt RW, Bishop DT, Lynch HT. et al. Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ 1990; 68: 655-665
    PubMedSearch in Google Scholar
  • 12 Chevrel JP, Amouroux J, Gueraud JP. [3] . Chirurgie 1975; 101: 708-721
    PubMedSearch in Google Scholar
  • 13 Brosens LA, van Hattem A, Hylind LM. et al. Risk of colorectal cancer in juvenile polyposis. Gut 2007; 56: 965-967
    CrossrefPubMedSearch in Google Scholar
  • 14 JE IJ, Rana SA, Atkinson NS. et al. Clinical risk factors of colorectal cancer in patients with serrated polyposis syndrome: a multicentre cohort analysis. Gut 2017; 66: 278-284
    CrossrefPubMedSearch in Google Scholar
  • 15 Rivero-Sanchez L, Lopez-Ceron M, Carballal S. et al. Reassessment colonoscopy to diagnose serrated polyposis syndrome in a colorectal cancer screening population. Endoscopy 2017; 49: 44-53
    Thieme ConnectPubMedSearch in Google Scholar
  • 16 van Herwaarden YJ, Verstegen MH, Dura P. et al. Low prevalence of serrated polyposis syndrome in screening populations: a systematic review. Endoscopy 2015; 47: 1043-1049
    Thieme ConnectPubMedSearch in Google Scholar
  • 17 Colussi D, Zagari RM, Morini B. et al. Prevalence of serrated polyposis syndrome in an FIT-based colorectal cancer screening cohort in Italy. Gut 2017; 66: 1532-1533
    CrossrefPubMedSearch in Google Scholar
  • 18 Rosty C, Brosens LAA, Dekker E. et al. Serrated polyposis. In: WHO Classification of Tumours Editorial Board Digestive System Tumours. WHO Classification of Tumours series. 5th. edn. Lyon, France: IARC; 2019
    Search in Google Scholar
  • 19 Rodriguez-Alcalde D, Carballal S, Moreira L. et al. High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome. Endoscopy 2019; 51: 142-151
    Thieme ConnectPubMedSearch in Google Scholar
  • 20 Carballal S, Rodriguez-Alcalde D, Moreira L. et al. Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study. Gut 2016; 65: 1829-1837
    CrossrefPubMedSearch in Google Scholar
  • 21 Parry S, Burt RW, Win AK. et al. Reducing the polyp burden in serrated polyposis by serial colonoscopy: the impact of nationally coordinated community surveillance. N Z Med J 2017; 130: 57-67
    PubMedSearch in Google Scholar
  • 22 Hazewinkel Y, Tytgat KM, van Eeden S. et al. Incidence of colonic neoplasia in patients with serrated polyposis syndrome who undergo annual endoscopic surveillance. Gastroenterology 2014; 147: 88-95
    CrossrefPubMedSearch in Google Scholar
  • 23 Bisgaard ML, Fenger K, Bulow S. et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3: 121-125
    CrossrefPubMedSearch in Google Scholar
  • 24 Rivera B, González S, Sánchez-Tomé E. et al. Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. Ann Oncol 2010; 22: 903-909
    PubMedSearch in Google Scholar
  • 25 Win AK, Reece JC, Dowty JG. et al. Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH . Int J Cancer 2016; 139: 1557-1563
    CrossrefPubMedSearch in Google Scholar
  • 26 Lubbe SJ, Di Bernardo MC, Chandler IP. et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 2009; 27: 3975-3980
    CrossrefPubMedSearch in Google Scholar
  • 27 Aretz S, Stienen D, Uhlhaas S. et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005; 26: 513-519
    CrossrefPubMedSearch in Google Scholar
  • 28 Volikos E, Robinson J, Aittomaki K. et al. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet 2006; 43: e18
    PubMedSearch in Google Scholar
  • 29 Atkins D, Best D, Briss PA. et al. Grading quality of evidence and strength of recommendations. BMJ 2004; 328: 1490
    CrossrefPubMedSearch in Google Scholar
  • 30 Dumonceau JM, Hassan C, Riphaus A. et al. European Society of Gastrointestinal Endoscopy (ESGE) Guideline Development Policy. Endoscopy 2012; 44: 626-629
    Thieme ConnectPubMedSearch in Google Scholar
  • 31 Linstone HA, Turoff M. The Delphi Method: Techniques and Applications. Boston: Addison-Wesley Pub. Co; 1975
    Search in Google Scholar
  • 32 Jones J, Hunter D. Qualitative Research: Consensus methods for medical and health services research. BMJ 1995; 311: 376-380
    CrossrefPubMedSearch in Google Scholar
  • 33 Likert R. A technique for the measurement of attitudes [microform]. 1932
    PubMedSearch in Google Scholar
  • 34 Wennberg JE. Time to tackle unwarranted variations in practice. BMJ 2011; 342: d1513
    CrossrefPubMedSearch in Google Scholar
  • 35 Karstensen JG, Burisch J, Pommergaard HC. et al. Colorectal cancer in individuals with familial adenomatous polyposis, based on analysis of the Danish Polyposis Registry. Clin Gastroenterol Hepatol 2019;
    CrossrefPubMedSearch in Google Scholar
  • 36 Kinzler KW, Nilbert MC, Su LK. et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253: 661-665
    CrossrefPubMedSearch in Google Scholar
  • 37 Syngal S, Brand RE, Church JM. et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015; 110: 223-62 ; quiz 63
    CrossrefPubMedSearch in Google Scholar
  • 38 Dutch Society for Clinical Genetics. CBO Guideline Hereditary Colorectal Cancer 2015. Version 2.0. Updated 2015-12-31. Available from: https://oncoline.nl/erfelijke.darmkanker . Accessed: 17 June 2019
    PubMed
  • 39 Sutcliffe EG, Bartenbaker Thompson A, Stettner AR. et al. Multi-gene panel testing confirms phenotypic variability in MUTYH-associated polyposis. Fam Cancer 2019; 18: 203-209
    CrossrefPubMedSearch in Google Scholar
  • 40 Papp J, Kovacs ME, Matrai Z. et al. Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. Fam Cancer 2016; 15: 85-97
    CrossrefPubMedSearch in Google Scholar
  • 41 Bulow S. Results of national registration of familial adenomatous polyposis. Gut 2003; 52: 742-746
    CrossrefPubMedSearch in Google Scholar
  • 42 Gibbons DC, Sinha A, Phillips RK. et al. Colorectal cancer: no longer the issue in familial adenomatous polyposis?. Fam Cancer 2011; 10: 11-20
    CrossrefPubMedSearch in Google Scholar
  • 43 Booij KA, Mathus-Vliegen EM, Taminiau JA. et al. Evaluation of 28 years of surgical treatment of children and young adults with familial adenomatous polyposis. J Ped Surg 2010; 45: 525-532
    CrossrefPubMedSearch in Google Scholar
  • 44 Cohen S, Gorodnichenco A, Weiss B. et al. Polyposis syndromes in children and adolescents: a case series data analysis. Eur J Gastroenterol Hepatol 2014; 26: 972-977
    CrossrefPubMedSearch in Google Scholar
  • 45 Kennedy RD, Potter DD, Moir CR. et al. The natural history of familial adenomatous polyposis syndrome: a 24 year review of a single center experience in screening, diagnosis, and outcomes. J Ped Surg 2014; 49: 82-86
    CrossrefPubMedSearch in Google Scholar
  • 46 Vasen HF, Moslein G, Alonso A. et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57: 704-713
    CrossrefPubMedSearch in Google Scholar
  • 47 Vasen HF, Griffioen G, Offerhaus GJ. et al. The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands. Dis Colon Rectum 1990; 33: 227-230
    CrossrefPubMedSearch in Google Scholar
  • 48 Bulow S, Bulow C, Nielsen TF. et al. Centralized registration, prophylactic examination, and treatment results in improved prognosis in familial adenomatous polyposis. Results from the Danish Polyposis Register. Scand J Gastroenterol 1995; 30: 989-993
    CrossrefPubMedSearch in Google Scholar
  • 49 Nieuwenhuis MH, Vogt S, Jones N. et al. Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis?. Gut 2012; 61: 734-738
    CrossrefPubMedSearch in Google Scholar
  • 50 Win AK, Dowty JG, Cleary SP. et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 2014; 146: 1208-1211 .e1–e5
    CrossrefPubMedSearch in Google Scholar
  • 51 Win AK, Hopper JL, Jenkins MA. Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis. Fam Cancer 2011; 10: 1-9
    PubMedSearch in Google Scholar
  • 52 Friedl W, Caspari R, Sengteller M. et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48: 515-521
    CrossrefPubMedSearch in Google Scholar
  • 53 Ricciardiello L, Ahnen DJ, Lynch PM. Chemoprevention of hereditary colon cancers: time for new strategies. Nature Rev Gastroenterol Hepatol 2016; 13: 352-361
    CrossrefPubMedSearch in Google Scholar
  • 54 Moussata D, Nancey S, Lapalus MG. et al. Frequency and severity of ileal adenomas in familial adenomatous polyposis after colectomy. Endoscopy 2008; 40: 120-125
    Thieme ConnectPubMedSearch in Google Scholar
  • 55 Koskenvuo L, Renkonen-Sinisalo L, Jarvinen HJ. et al. Risk of cancer and secondary proctectomy after colectomy and ileorectal anastomosis in familial adenomatous polyposis. Int J Colorectal Dis 2014; 29: 225-30
    CrossrefPubMedSearch in Google Scholar
  • 56 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
    CrossrefPubMedSearch in Google Scholar
  • 57 Church J, Burke C, McGannon E. et al. Predicting polyposis severity by proctoscopy: how reliable is it?. Dis Colon Rectum 2001; 44: 1249-1254
    CrossrefPubMedSearch in Google Scholar
  • 58 Vasen HF, van Duijvendijk P, Buskens E. et al. Decision analysis in the surgical treatment of patients with familial adenomatous polyposis: a Dutch-Scandinavian collaborative study including 659 patients. Gut 2001; 49: 231-235
    CrossrefPubMedSearch in Google Scholar
  • 59 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
    CrossrefPubMedSearch in Google Scholar
  • 60 Smith JC, Schaffer MW, Ballard BR. et al. Adenocarcinomas after prophylactic surgery for familial adenomatous polyposis. J Cancer Ther 2013; 4: 260-270
    CrossrefPubMedSearch in Google Scholar
  • 61 von Roon AC, Will OC, Man RF. et al. Mucosectomy with handsewn anastomosis reduces the risk of adenoma formation in the anorectal segment after restorative proctocolectomy for familial adenomatous polyposis. Ann Surg 2011; 253: 314-317
    CrossrefPubMedSearch in Google Scholar
  • 62 Zahid A, Kumar S, Koorey D. et al. Pouch adenomas in Familial Adenomatous Polyposis after restorative proctocolectomy. Int J Surg 2015; 13: 133-136
    CrossrefPubMedSearch in Google Scholar
  • 63 Patel NJ, Ponugoti PL, Rex DK. Cold snare polypectomy effectively reduces polyp burden in familial adenomatous polyposis. Endosc Int Open 2016; 4: E472-E474
    Thieme ConnectPubMedSearch in Google Scholar
  • 64 Sansone S, Nakajima T, Saito Y. Endoscopic submucosal dissection of a large neoplastic lesion at the ileorectal anastomosis in a familial adenomatous polyposis patient. Dig Endosc 2017; 29: 390-391
    CrossrefPubMedSearch in Google Scholar
  • 65 Saurin JC, Napoleon B, Gay G. et al. Endoscopic management of patients with familial adenomatous polyposis (FAP) following a colectomy. Endoscopy 2005; 37: 499-501
    Thieme ConnectPubMedSearch in Google Scholar
  • 66 Bjork 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
    CrossrefPubMedSearch in Google Scholar
  • 67 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
    CrossrefPubMedSearch in Google Scholar
  • 68 Saurin JC, Ligneau B, Ponchon T. et al. The influence of mutation site and age on the severity of duodenal polyposis in patients with familial adenomatous polyposis. Gastrointest Endosc 2002; 55: 342-347
    CrossrefPubMedSearch in Google Scholar
  • 69 Bulow S, Bjork J, Christensen IJ. et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004; 53: 381-386
    CrossrefPubMedSearch in Google Scholar
  • 70 Sourrouille I, Lefevre JH, Shields C. et al. Surveillance of duodenal polyposis in familial adenomatous polyposis: should the Spigelman score be modified?. Dis Colon Rectum 2017; 60: 1137-1146
    CrossrefPubMedSearch in Google Scholar
  • 71 Vasen HF, Bulow S, Myrhoj T. et al. Decision analysis in the management of duodenal adenomatosis in familial adenomatous polyposis. Gut 1997; 40: 716-719
    CrossrefPubMedSearch in Google Scholar
  • 72 Wallace MH, Phillips RK. Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 1998; 85: 742-750
    CrossrefPubMedSearch in Google Scholar
  • 73 Lepisto A, Kiviluoto T, Halttunen J. et al. Surveillance and treatment of duodenal adenomatosis in familial adenomatous polyposis. Endoscopy 2009; 41: 504-509
    Thieme ConnectPubMedSearch in Google Scholar
  • 74 Bulow S, Christensen IJ, Hojen H. et al. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis. Colorectal Dis 2012; 14: 947-952
    CrossrefPubMedSearch in Google Scholar
  • 75 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
    CrossrefPubMedSearch in Google Scholar
  • 76 Thiruvengadam SS, Lopez R, O'Malley 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.e2
    CrossrefPubMedSearch in Google Scholar
  • 77 Spigelman AD, Williams CB, Talbot IC. et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2: 783-785
    PubMedSearch in Google Scholar
  • 78 Kashiwagi H, Spigelman AD, Debinski HS. et al. Surveillance of ampullary adenomas in familial adenomatous polyposis. Lancet 1994; 344: 1582
    PubMedSearch in Google Scholar
  • 79 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
    Thieme ConnectPubMedSearch in Google Scholar
  • 80 Alarcon FJ, Burke CA, Church JM. et al. Familial adenomatous polyposis: efficacy of endoscopic and surgical treatment for advanced duodenal adenomas. Dis Colon Rectum 1999; 42: 1533-1536
    CrossrefPubMedSearch in Google Scholar
  • 81 Cordero-Fernandez C, Garzon-Benavides M, Pizarro-Moreno A. et al. Gastroduodenal involvement in patients with familial adenomatous polyposis. Prospective study of the nature and evolution of polyps: evaluation of the treatment and surveillance methods applied. Eur J Gastroenterol Hepatol 2009; 21: 1161-1167
    CrossrefPubMedSearch in Google Scholar
  • 82 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
    Thieme ConnectPubMedSearch in Google Scholar
  • 83 Inoki K, Nakajima T, Nonaka S. et al. Feasibility of endoscopic resection using bipolar snare for nonampullary duodenal tumours in familial adenomatous polyposis patients. Fam Cancer 2018; 17: 517-524
    CrossrefPubMedSearch in Google Scholar
  • 84 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
    CrossrefPubMedSearch in Google Scholar
  • 85 Morpurgo E, Vitale GC, Galandiuk S. et al. Clinical characteristics of familial adenomatous polyposis and management of duodenal adenomas. J Gastrointest Surg 2004; 8: 559-564
    CrossrefPubMedSearch in Google Scholar
  • 86 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
    CrossrefPubMedSearch in Google Scholar
  • 87 Soravia C, Berk T, Haber G. et al. Management of advanced duodenal polyposis in familial adenomatous polyposis. J Gastrointest Surg 1997; 1: 474-478
    CrossrefPubMedSearch in Google Scholar
  • 88 Yachida T, Nakajima T, Nonaka S. et al. Characteristics and clinical outcomes of duodenal neoplasia in Japanese patients with familial adenomatous polyposis. J Clin Gastroenterol 2017; 51: 407-411
    CrossrefPubMedSearch in Google Scholar
  • 89 Balmforth DC, Phillips RK, Clark SK. Advanced duodenal disease in familial adenomatous polyposis: how frequently should patients be followed up after successful therapy?. Fam Cancer 2012; 11: 553-557
    CrossrefPubMedSearch in Google Scholar
  • 90 Walton SJ, Kallenberg FG, Clark SK. et al. Frequency and features of duodenal adenomas in patients with MUTYH-associated polyposis. Clin Gastroenterol Hepatol 2016; 14: 986-992
    CrossrefPubMedSearch in Google Scholar
  • 91 Vogt S, Jones N, Christian D. et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976-1985 .e1–e10
    CrossrefPubMedSearch in Google Scholar
  • 92 Nielsen M, Poley JW, Verhoef S. et al. Duodenal carcinoma in MUTYH-associated polyposis. J Clin Pathol 2006; 59: 1212-1215
    CrossrefPubMedSearch in Google Scholar
  • 93 Gluck N, Strul H, Rozner G. et al. Endoscopy and EUS are key for effective surveillance and management of duodenal adenomas in familial adenomatous polyposis. Gastrointest Endosc 2015; 81: 960-966
    CrossrefPubMedSearch in Google Scholar
  • 94 Ma T, Jang EJ, Zukerberg LR. et al. Recurrences are common after endoscopic ampullectomy for adenoma in the familial adenomatous polyposis (FAP) syndrome. Surg Endosc 2014; 28: 2349-2356
    CrossrefPubMedSearch in Google Scholar
  • 95 Ouaissi M, Panis Y, Sielezneff I. et al. Long-term outcome after ampullectomy for ampullary lesions associated with familial adenomatous polyposis. Dis Colon Rectum 2005; 48: 2192-2196
    CrossrefPubMedSearch in Google Scholar
  • 96 Ito K, Fujita N, Noda Y. et al. Preoperative evaluation of ampullary neoplasm with EUS and transpapillary intraductal US: a prospective and histopathologically controlled study. Gastrointest Endosc 2007; 66: 740-747
    CrossrefPubMedSearch in Google Scholar
  • 97 Napoleon B, Gincul R, Ponchon T. et al. Endoscopic papillectomy for early ampullary tumors: long-term results from a large multicenter prospective study. Endoscopy 2014; 46: 127-134
    Thieme ConnectPubMedSearch in Google Scholar
  • 98 Menzel J, Hoepffner N, Sulkowski U. et al. Polypoid tumors of the major duodenal papilla: preoperative staging with intraductal US, EUS, and CT--a prospective, histopathologically controlled study. Gastrointest Endosc 1999; 49: 349-357
    CrossrefPubMedSearch in Google Scholar
  • 99 Bianchi LK, Burke CA, Bennett AE. et al. Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 180-185
    CrossrefPubMedSearch in Google Scholar
  • 100 Church JM, McGannon E, Hull-Boiner S. et al. Gastroduodenal polyps in patients with familial adenomatous polyposis. Dis Colon Rectum 1992; 35: 1170-1173
    CrossrefPubMedSearch in Google Scholar
  • 101 Iida M, Yao T, Itoh H. et al. Natural history of gastric adenomas in patients with familial adenomatosis coli/Gardnerʼs syndrome. Cancer 1988; 61: 605-611
    CrossrefPubMedSearch in Google Scholar
  • 102 Walton SJ, Frayling IM, Clark SK. et al. Gastric tumours in FAP. Fam Cancer 2017; 16: 363-369
    CrossrefPubMedSearch in Google Scholar
  • 103 Mankaney G, Leone P, Cruise M. et al. Gastric cancer in FAP: a concerning rise in incidence. Fam Cancer 2017; 16: 371-376
    CrossrefPubMedSearch in Google Scholar
  • 104 Offerhaus GJ, Giardiello FM, Krush AJ. et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992; 102: 1980-1982
    CrossrefPubMedSearch in Google Scholar
  • 105 Campos FG, Martinez CAR, Bustamante Lopez LA. et al. Advanced duodenal neoplasia and carcinoma in familial adenomatous polyposis: outcomes of surgical management. J Gastrointest Oncol 2017; 8: 877-884
    CrossrefPubMedSearch in Google Scholar
  • 106 van Heumen BW, Nieuwenhuis MH, van Goor H. et al. Surgical management for advanced duodenal adenomatosis and duodenal cancer in Dutch patients with familial adenomatous polyposis: a nationwide retrospective cohort study. Surgery 2012; 151: 681-690
    CrossrefPubMedSearch in Google Scholar
  • 107 Alderlieste YA, Bastiaansen BA, Mathus-Vliegen EM. et al. High rate of recurrent adenomatosis during endoscopic surveillance after duodenectomy in patients with familial adenomatous polyposis. Fam Cancer 2013; 12: 699-706
    CrossrefPubMedSearch in Google Scholar
  • 108 Latchford AR, Neale K, Phillips RK. et al. Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance. Dis Colon Rectum 2011; 54: 1547-1551
    CrossrefPubMedSearch in Google Scholar
  • 109 Korsse SE, Dewint P, Kuipers EJ. et al. Small bowel endoscopy and Peutz-Jeghers syndrome. Best Pract Res Clin Gastroenterol 2012; 26: 263-278
    PubMedSearch in Google Scholar
  • 110 van Lier MG, Mathus-Vliegen EM, Wagner A. et al. High cumulative risk of intussusception in patients with Peutz–Jeghers syndrome: time to update surveillance guidelines?. Am J Gastroenterol 2011; 106: 940-945
    CrossrefPubMedSearch in Google Scholar
  • 111 Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer 2011; 10: 455-461
    CrossrefPubMedSearch in Google Scholar
  • 112 Giardiello FM, Brensinger JD, Tersmette AC. et al. Very high risk of cancer in familial Peutz–Jeghers syndrome. Gastroenterology 2000; 119: 1447-1453
    CrossrefPubMedSearch in Google Scholar
  • 113 Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006; 4: 408-415
    CrossrefPubMedSearch in Google Scholar
  • 114 Resta N, Pierannunzio D, Lenato GM. et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis 2013; 45: 606-611
    CrossrefPubMedSearch in Google Scholar
  • 115 Chen HY, Jin XW, Li BR. et al. Cancer risk in patients with Peutz–Jeghers syndrome: A retrospective cohort study of 336 cases. Tumour Biol 2017; 39: 1010428317705131
    Search in Google Scholar
  • 116 Goverde A, Korsse SE, Wagner A. et al. Small-bowel surveillance in patients with Peutz-Jeghers syndrome: comparing magnetic resonance enteroclysis and double balloon enteroscopy. J Clin Gastroenterol 2017; 51: e27-e33
    CrossrefPubMedSearch in Google Scholar
  • 117 Maccioni F, Al Ansari N, Mazzamurro F. et al. Surveillance of patients affected by Peutz-Jeghers syndrome: diagnostic value of MR enterography in prone and supine position. Abdom Imaging 2012; 37: 279-287
    CrossrefPubMedSearch in Google Scholar
  • 118 Gupta A, Postgate AJ, Burling D. et al. A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome. AJR Am J Roentgenol 2010; 195: 108-116
    CrossrefPubMedSearch in Google Scholar
  • 119 Urquhart P, Grimpen F, Lim GJ. et al. Capsule endoscopy versus magnetic resonance enterography for the detection of small bowel polyps in Peutz–Jeghers syndrome. Fam Cancer 2014; 13: 249-255
    CrossrefPubMedSearch in Google Scholar
  • 120 Schulmann K, Hollerbach S, Kraus K. et al. Feasibility and diagnostic utility of video capsule endoscopy for the detection of small bowel polyps in patients with hereditary polyposis syndromes. Am J Gastroenterol 2005; 100: 27-37
    CrossrefPubMedSearch in Google Scholar
  • 121 Caspari R, Friedl W, Mandl M. et al. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994; 343: 629-632
    CrossrefPubMedSearch in Google Scholar
  • 122 Chen TH, Lin WP, Su MY. et al. Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan. Dig Dis Sci 2011; 56: 1472-1475
    CrossrefPubMedSearch in Google Scholar
  • 123 Belsha D, Urs A, Attard T. et al. Effectiveness of double-balloon enteroscopy-facilitated polypectomy in pediatric patients with Peutz-Jeghers syndrome. J Ped Gastroenterol Nutr 2017; 65: 500-502
    CrossrefPubMedSearch in Google Scholar
  • 124 Bizzarri B, Borrelli O, de'Angelis N. et al. Management of duodenal-jejunal polyps in children with Peutz-Jeghers syndrome with single-balloon enteroscopy. J Ped Gastroenterol Nutr 2014; 59: 49-53
    CrossrefPubMedSearch in Google Scholar
  • 125 Akarsu M, Ugur KantarF, Akpinar H. Double-balloon endoscopy in patients with Peutz-Jeghers syndrome. Turkish J Gastroenterol 2012; 23: 496-502
    PubMedSearch in Google Scholar
  • 126 Serrano M, Mao-de-Ferro S, Pinho R. et al. Double-balloon enteroscopy in the management of patients with Peutz-Jeghers syndrome: a retrospective cohort multicenter study. Rev Esp Enferm Dig 2013; 105: 594-599
    CrossrefPubMedSearch in Google Scholar
  • 127 Latchford AR, Neale K, Phillips RK. et al. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum 2012; 55: 1038-1043
    CrossrefPubMedSearch in Google Scholar
  • 128 Ma C, Giardiello FM, Montgomery EA. Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation. Am J Surg Pathol 2014; 38: 1618-1626
    CrossrefPubMedSearch in Google Scholar
  • 129 Aretz S, Stienen D, Uhlhaas S. et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 2007; 44: 702-709
    CrossrefPubMedSearch in Google Scholar
  • 130 Wain KE, Ellingson MS, McDonald J. et al. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Genet Med 2014; 16: 588-593
    Search in Google Scholar
  • 131 Alimi A, Weeth-Feinstein LA, Stettner A. et al. Overlap of juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance. Am J Med Genet A 2015; 167: 1305-1308
    CrossrefPubMedSearch in Google Scholar
  • 132 Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998; 5: 751-756
    CrossrefPubMedSearch in Google Scholar
  • 133 Gonzalez RS, Adsay V, Graham RP. et al. Massive gastric juvenile-type polyposis: a clinicopathological analysis of 22 cases. Histopathology 2017; 70: 918-928
    CrossrefPubMedSearch in Google Scholar
  • 134 Jee MJ, Yoon SM, Kim EJ. et al. A novel germline mutation in exon 10 of the SMAD4 gene in a familial juvenile polyposis. Gut Liver 2013; 7: 747-751
    CrossrefPubMedSearch in Google Scholar
  • 135 Postgate AJ, Will OC, Fraser CH. et al. Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. Endoscopy 2009; 41: 1001-1004
    Thieme ConnectPubMedSearch in Google Scholar
  • 136 Snover DC, Ahnen DJ, Burt RW. et al. Serrated polyps of the colon and rectum and serrated polyposis. In: Bosman T, Carneiro F, Hruban R. et al., eds. WHO classification of tumours of the digestive system. Lyon, France: IARC; 2010: 160-165
    Search in Google Scholar
  • 137 Rubio CA, Stemme S, Jaramillo E. et al. Hyperplastic polyposis coli syndrome and colorectal carcinoma. Endoscopy 2006; 38: 266-270
    Thieme ConnectPubMedSearch in Google Scholar
  • 138 MacPhail ME, Thygesen SB, Patel N. et al. Endoscopic control of polyp burden and expansion of surveillance intervals in serrated polyposis syndrome. Gastrointest Endosc 2019; 90: 96-100
    CrossrefPubMedSearch in Google Scholar
  • 139 Pellise M, Burgess NG, Tutticci N. et al. Endoscopic mucosal resection for large serrated lesions in comparison with adenomas: a prospective multicentre study of 2000 lesions. Gut 2017; 66: 644-653
    CrossrefPubMedSearch in Google Scholar
  • 140 Boparai KS, Mathus-Vliegen EM, Koornstra JJ. et al. Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. Gut 2010; 59: 1094-1100
    CrossrefPubMedSearch in Google Scholar
  • 141 Bleijenberg AG, IJspeert JE, van Herwaarden YJ. et al. Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study. Gut 2019;
    CrossrefPubMedSearch in Google Scholar
  • 142 Heresbach D, Barrioz T, Lapalus MG. et al. Miss rate for colorectal neoplastic polyps: a prospective multicenter study of back-to-back video colonoscopies. Endoscopy 2008; 40: 284-290
    Thieme ConnectPubMedSearch in Google Scholar
  • 143 Boparai KS, van den Broek FJ, van Eeden S. et al. Increased polyp detection using narrow band imaging compared with high resolution endoscopy in patients with hyperplastic polyposis syndrome. Endoscopy 2011; 43: 676-682
    Thieme ConnectPubMedSearch in Google Scholar
  • 144 Hazewinkel Y, Tytgat KM, van Leerdam ME. et al. Narrow-band imaging for the detection of polyps in patients with serrated polyposis syndrome: a multicenter, randomized, back-to-back trial. Gastrointest Endosc 2015; 81: 531-538
    CrossrefPubMedSearch in Google Scholar
  • 145 Lopez-Vicente J, Rodriguez-Alcalde D, Hernandez L. et al. Panchromoendoscopy increases detection of polyps in patients with serrated polyposis syndrome. Clin Gastroenterol Hepatol 2018;
    CrossrefPubMedSearch in Google Scholar
  • 146 Rivero-Sánchez L, López Vicente J, Hernandez Villalba L. et al. Endocuff-assisted colonoscopy for surveillance of serrated polyposis syndrome: a multicenter randomized controlled trial. Endoscopy 2019;
    Thieme ConnectPubMedSearch in Google Scholar
  • 147 Chow E, Lipton L, Lynch E. et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006; 131: 30-39
    CrossrefPubMedSearch in Google Scholar
  • 148 Lage P, Cravo M, Sousa R. et al. Management of Portuguese patients with hyperplastic polyposis and screening of at-risk first-degree relatives: a contribution for future guidelines based on a clinical study. Am J Gastroenterol 2004; 99: 1779-1784
    CrossrefPubMedSearch in Google Scholar
  • 149 Boparai KS, Reitsma JB, Lemmens V. et al. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. Gut 2010; 59: 1222-1225
    CrossrefPubMedSearch in Google Scholar
  • 150 Win AK, Walters RJ, Buchanan DD. et al. Cancer risks for relatives of patients with serrated polyposis. Am J Gastroenterol 2012; 107: 770-778
    CrossrefPubMedSearch in Google Scholar
  • 151 Egoavil C, Juarez M, Guarinos C. et al. Increased risk of colorectal cancer in patients with multiple serrated polyps and their first-degree relatives. Gastroenterology 2017; 153: 106-112.e2
    CrossrefPubMedSearch in Google Scholar
  • 152 Caetano AC, Ferreira H, Soares J. et al. Phenotypic characterization and familial risk in hyperplastic polyposis syndrome. Scand J Gastroenterol 2013; 48: 1166-1172
    CrossrefPubMedSearch in Google Scholar
  • 153 Oquinena S, Guerra A, Pueyo A. et al. Serrated polyposis: prospective study of first-degree relatives. Eur J Gastroenterol Hepatol 2013; 25: 28-32
    CrossrefPubMedSearch in Google Scholar
  • 154 Hazewinkel Y, Koornstra JJ, Boparai KS. et al. Yield of screening colonoscopy in first-degree relatives of patients with serrated polyposis syndrome. J Clin Gastroenterol 2015; 49: 407-412
    CrossrefPubMedSearch in Google Scholar
  • 155 Cohen S, Hyer W, Mas E. et al. Management of juvenile polyposis syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group. J Ped Gastroenterol Nutr 2019; 68: 453-462
    CrossrefPubMedSearch in Google Scholar
  • 156 Hyer W, Cohen S, Attard T. et al. Management of familial adenomatous polyposis in children and adolescents: position paper from the ESPGHAN Polyposis Working Group. J Ped Gastroenterol Nutr 2019; 68: 428-441
    CrossrefPubMedSearch in Google Scholar
  • 157 Latchford A, Cohen S, Auth M. et al. Management of Peutz-Jeghers syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group. J Ped Gastroenterol Nutr 2019; 68: 442-452
    CrossrefPubMedSearch in Google Scholar