Familial adenomatous polyposis: complex patient management

Česká verzia

Authors: Jiří Cyrany ^1,2; Jan Bureš ¹; Stanislav Rejchrt ¹; Marcela Kopáčová ¹
Authors place of work: II. interní gastroenterologická klinika LF UK a FN Hradec Králové ¹; Interní oddělení Oblastní nemocnice Jičín a. s. ²
Published in the journal: Vnitř Lék 2018; 64(6): 635-641
Category: Reviews

Summary

Familial adenomatous polyposis (FAP) is a hereditary disease characterized by presence of numerous colorectal adenomas. It often exposes its carrier to absolute risk of colorectal cancer, but also to other extracolonic tumours (especially to duodenal cancer and desmoid). Screening and surveillance of FAP patients leads to reduction of colorectal cancer incidence and mortality. Colonoscopy/lower endoscopy and esophagogastroduodenoscopy (including use of side-viewing endoscope) are the principal examinations. Colectomy is the standard therapeutic procedure, but endoscopic therapy plays relevant role both in upper and lower gastrointestinal tract. Recent international guidelines and some new tools for severity classification enable effectively reduce the mortality related to this disease by individualized patient management.

Key words:

colorectal cancer – familial adenomatous polyposis

Zdroje

Vasen HF, Moslein G, Alonso A et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57(5): 704–713. Dostupné z DOI: <http://dx.doi.org/10.1136/gut.2007.136127>.
Balmana J, Balaguer F, Cervantes A et al. Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2013; 24(Suppl 6): vi73-vi80. Dostupné z DOI: <http://dx.doi.org/10.1093/annonc/mdt209>.
Stoffel EM, Mangu PB, Gruber SB et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 2015; 33(2): 209–217. Dostupné z DOI: <http://dx.doi.org/10.1200/JCO.2014.58.1322>.
[National Comprehensive Cancer Network]. Genetic/Familial High-Risk Assessment: Colorectal. NCCN Clinical Practice Guidelines in Oncology 2017 [updated 10.10.2017; cited 20.10.2017]. Dostupné z WWW: <https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf>.
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: 223–262; quiz 263. Dostupné z DOI: <http://dx.doi.org/10.1038/ajg.2014.435>.
Herzig D, Hardiman K, Weiser M et al. The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes. Dis Colon Rectum 2017; 60(9): 881–894. Dostupné z DOI: <http://dx.doi.org/10.1097/DCR.0000000000000912>.
Lynch PM, Morris JS, Wen S et al. A proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc 2016; 84(1): 115–125. Dostupné z DOI: <http://dx.doi.org/10.1016/j.gie.2015.12.029>.
Spigelman AD, Williams CB, Talbot IC et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2(8666): 783–785.
Saurin JC, Gutknecht C, Napoleon B et al. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol 2004; 22(3): 493–498. Dostupné z DOI: <http://dx.doi.org/10.1200/JCO.2004.06.028>.
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(11): 1137–1146. Dostupné z DOI: <http://dx.doi.org/10.1097/DCR.0000000000000903>.
Hegde M, Ferber M, Mao R et al. [Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee]. ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med 2014; 16(1): 101–116. Dostupné z DOI: <http://dx.doi.org/10.1038/gim.2013.166>.
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(5): 485–492. Dostupné z DOI: <http://dx.doi.org/10.1001/jama.2012.8780>.
Repak R, Kohoutova D, Podhola M et al. The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. Gastrointest Endosc 2016; 84(4): 718–725. Dostupné z DOI: <http://dx.doi.org/10.1016/j.gie.2016.06.023>.
Kallenberg FG, Bastiaansen BA, 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(2): 181–185. Dostupné z DOI: <http://dx.doi.org/10.1055/s-0042–118311>.
Alderlieste YA, Rauws EA, Mathus-Vliegen EM et al. Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis. Fam Cancer 2013; 12(1): 51–56. Dostupné z DOI: <http://dx.doi.org/10.1007/s10689–012–9571–1>.
Pennazio M, Spada C, Eliakim R et al. Small-bowel capsule endoscopy and device-assisted enteroscopy for diagnosis and treatment of small-bowel disorders: European Society of Gastrointestinal Endoscopy (ESGE) Clinical Guideline. Endoscopy 2015; 47(4): 352–376. Dostupné z DOI: <http://dx.doi.org/10.1055/s-0034–1391855>.
De Marchis ML, Tonelli F, Quaresmini D et al. Desmoid Tumors in Familial Adenomatous Polyposis. Anticancer Res 2017; 37(7): 3357–3366. Dostupné z DOI: <http://dx.doi.org/10.21873/anticanres.11702>.
Steinhagen E, Hui VW, Levy RA et al. Results of a prospective thyroid ultrasound screening program in adenomatous polyposis patients. Am J Surg 2014; 208(5): 764–769. Dostupné z DOI: <http://dx.doi.org/10.1016/j.amjsurg.2014.03.012>.
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(4): 960–966. Dostupné z DOI: <http://dx.doi.org/10.1016/j.gie.2014.08.029>.
Basford PJ, Bhandari P. Endoscopic management of nonampullary duodenal polyps. Therap Adv Gastroenterol 2012; 5(2): 127–138. Dostupné z DOI: <http://dx.doi.org/10.1177/1756283X11429590>.
Hyun JJ, Lee TH, Park JS et al. A prospective multicenter study of submucosal injection to improve endoscopic snare papillectomy for ampullary adenoma. Gastrointest Endosc 2017; 85(4): 746–755. Dostupné z DOI: <http://dx.doi.org/10.1016/j.gie.2016.08.013>.
Watanabe Y, Ishida H, Baba H et al. Pancreas-sparing total duodenectomy for Spigelman stage IV duodenal polyposis associated with familial adenomatous polyposis: experience of 10 cases at a single institution. Fam Cancer 2017; 16(1): 91–98. Dostupné z DOI: <http://dx.doi.org/10.1007/s10689–016–9932–2>.
Burke CA, Phillips R, Berger MF et al. Children’s International Polyposis (CHIP) study: a randomized, double-blind, placebo-controlled study of celecoxib in children with familial adenomatous polyposis. Clin Exp Gastroenterol 2017; 10: 177–185. Dostupné z DOI: <http://dx.doi.org/10.2147/CEG.S121841>.
Lynch PM. Chemoprevention of familial adenomatous polyposis. Fam Cancer 2016; 15(3): 467–475. Dostupné z DOI: <http://dx.doi.org/10.1007/s10689–016–9901–9>.
Pfizer s.r.o. Informační dopis ONSENAL 2011 [updated 4.4.2011; cited 20.10.2017]. Dostupné z WWW: <http://www.sukl.cz/uploads/Farmakovigilance/DHPC_for_Onsenal_EU_22March_CS.pdf>.
Pfizer Inc. Withdrawal of Approval of Familial Adenomatous Polyposis Indication for Celebrex. [updated 8.6.2012; cited 20.10.2017]. Dostupné z WWW: <https://www.federalregister.gov/documents/2012/06/08/2012–13900/pfizer-inc-withdrawal-of-approval-of-familial-adenomatous-polyposis-indication-for-celebrex>.
Státní ústav pro kontrolu léčiv. Formulář oznámení o použití neregistrovaného léčivého přípravku 2013 [updated 2.4.2013; cited 20.10.2017]. Dostupné z WWW: <http://www.sukl.cz/modules/unregistered/?rewrite=modules/unregistered>.
West NJ, Clark SK, Phillips RK et al. Eicosapentaenoic acid reduces rectal polyp number and size in familial adenomatous polyposis. Gut 2010; 59(7): 918–925. Dostupné z DOI: <http://dx.doi.org//10.1136/gut.2009.200642>.
Barrow P, Khan M, Lalloo F et al. Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome. Br J Surg 2013; 100(13): 1719–1731. Dostupné z DOI: <http://dx.doi.org/10.1002/bjs.9316>.
Cyrany J. Familial Adenomatous Polyposis Registry in Czech Republic – History, Present and Future. Acta Medica (Hradec Kralove) 2017; 60(1): 55–57.