Adenomatous Polyposis Syndromes: Diagnosis and Management

Abstract

Familial adenomatous polyposis (FAP) syndromes make up fewer than 1% of patients diagnosed with colorectal cancer each year. Patients with familial polyposis syndromes including FAP, attenuated FAP, and MYH-associated polyposis (MAP), are an important group often cared for by colorectal surgeons. Registry and screening programs have been shown to improve survival in patients with adenomatous polyposis, as it allows patients to undergo surgical intervention prior to the development of colorectal cancer. There are several surgical options for the treatment of colorectal polyps in patients with adenomatous polyposis, so it is important to choose the appropriate procedure for each patient after discussing the risk of cancer in the rectal remnant, as well as bowel and sexual function in a predominantly young patient group. Regardless of procedure choice, long-term follow-up is important with yearly endoscopic evaluation of the pouch or remnant rectum, as well as appropriate screening for extracolonic malignancy. Adenomatous polyposis patients require an intense care regimen, but can have a normal lifespan with good quality when cared for appropriately.

Keywords

polyposis - familial adenomatous polyposis - colorectal cancer

• References

• 1 Varesco L. Familial adenomatous polyposis: genetics and epidemiology. Tech Coloproctol 2004; 8 (Suppl. 02) s305-s308
• 2 Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3 (2) 121-125
• 3 Reed TE, Neel JV. A genetic study of multiple polyposis of the colon with an appendix deriving a method of estimating relative fitness. Am J Hum Genet 1955; 7 (3) 236-263
• 4 Björk J, Akerbrant H, Iselius L, Alm T, Hultcrantz R. Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females. Scand J Gastroenterol 1999; 34 (12) 1230-1235
• 5 Joslyn G, Carlson M, Thliveris A , et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991; 66 (3) 601-613
• 6 Groden J, Thliveris A, Samowitz W , et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66 (3) 589-600
• 7 Powell SM, Petersen GM, Krush AJ , et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329 (27) 1982-1987
• 8 Burt RW, Leppert MF, Slattery ML , et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004; 127 (2) 444-451
• 9 Sieber OM, Lipton L, Crabtree M , et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348 (9) 791-799
• 10 Nielsen M, Franken PF, Reinards TH , et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005; 42 (9) e54-e54
• 11 Ripa R, Bisgaard ML, Bülow S, Nielsen FC. De novo mutations in familial adenomatous polyposis (FAP). Eur J Hum Genet 2002; 10 (10) 631-637
• 12 Bülow S. Results of national registration of familial adenomatous polyposis. Gut 2003; 52 (5) 742-746
• 13 Iwama T, Tamura K, Morita T , et al; Japanese Society for Cancer of the Colon and Rectum. A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. Int J Clin Oncol 2004; 9 (4) 308-316
• 14 Ho JWC, Chu KM, Tse CW, Yuen ST. Phenotype and management of patients with familial adenomatous polyposis in Hong Kong: perspective of the Hereditary Gastrointestinal Cancer Registry. Hong Kong Med J 2002; 8 (5) 342-347
• 15 Mallinson EKL, Newton KF, Bowen J , et al. The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis. Gut 2010; 59 (10) 1378-1382
• 16 Knudsen AL, Bülow S, Tomlinson I, Möslein G, Heinimann K, Christensen IJ ; AFAP Study Group. Attenuated familial adenomatous polyposis: results from an international collaborative study. Colorectal Dis 2010; 12 (10 Online): e243-e249
• 17 Lockhartmummery P. Cancer and heredity. Lancet 1925; 205 (5296) 427-429
• 18 Berk T, Cohen Z, McLeod RS, Cullen JB. Surveillance in relatives of patients with adenomatous polyposis. Semin Surg Oncol 1987; 3 (2) 105-108
• 19 Barrow P, Khan M, Lalloo F, Evans DG, Hill J. 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
• 20 Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW ; American College of Gastroenterology. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015; 110 (2) 223-262 , quiz 263
• 21 Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1991; 100 (6) 1658-1664
• 22 Davila RE, Rajan E, Baron TH , et al; Standards of Practice Committee, American Society for Gastrointestinal Endoscopy. ASGE guideline: colorectal cancer screening and surveillance. Gastrointest Endosc 2006; 63 (4) 546-557
• 23 Vasen HFA, Möslein G, Alonso A , et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57 (5) 704-713
• 24 Lubbe SJ, Di Bernardo MC, Chandler IP, Houlston RS. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 2009; 27 (24) 3975-3980
• 25 Nielsen M, Joerink-van de Beld MC, Jones N , et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 2009; 136 (2) 471-476
• 26 Church J, Burke C, McGannon E, Pastean O, Clark B. 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 (9) 1175-1181
• 27 Aziz O, Athanasiou T, Fazio VW , et al. Meta-analysis of observational studies of ileorectal versus ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg 2006; 93 (4) 407-417
• 28 Fazio VW, Kiran RP, Remzi FH , et al. Ileal pouch anal anastomosis: analysis of outcome and quality of life in 3707 patients. Ann Surg 2013; 257 (4) 679-685
• 29 Nieuwenhuis MH, Douma KF, Bleiker EM, Bemelman WA, Aaronson NK, Vasen HF. Female fertility after colorectal surgery for familial adenomatous polyposis: a nationwide cross-sectional study. Ann Surg 2010; 252 (2) 341-344
• 30 Church J. Ileoanal pouch neoplasia in familial adenomatous polyposis: an underestimated threat. Dis Colon Rectum 2005; 48 (9) 1708-1713
• 31 Remzi FH, Church JM, Bast J , et al. Mucosectomy vs. stapled ileal pouch-anal anastomosis in patients with familial adenomatous polyposis: functional outcome and neoplasia control. Dis Colon Rectum 2001; 44 (11) 1590-1596
• 32 Murphy PB, Khot Z, Vogt KN, Ott M, Dubois L. Quality of life after total proctocolectomy with ileostomy or IPAA: a systematic review. Dis Colon Rectum 2015; 58 (9) 899-908
• 33 Olsen KØ, Juul S, Bülow S , et al. Female fecundity before and after operation for familial adenomatous polyposis. Br J Surg 2003; 90 (2) 227-231
• 34 Ahmed Ali U, Keus F, Heikens JT , et al. Open versus laparoscopic (assisted) ileo pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis. Cochrane Database Syst Rev 2009; (1) CD006267
• 35 Benlice C, Stocchi L, Costedio M , et al. Laparoscopic IPAA is not associated with decreased rates of incisional hernia and small-bowel obstruction when compared with open technique: long-term follow-up of a case-matched study. Dis Colon Rectum 2015; 58 (3) 314-320
• 36 Marcello PW, Fleshman JW, Milsom JW , et al. Hand-assisted laparoscopic vs. laparoscopic colorectal surgery: a multicenter, prospective, randomized trial. Dis Colon Rectum 2008; 51 (6) 818-826 , discussion 826–828
• 37 Wu JS, Paul P, McGannon EA, Church JM. APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg 1998; 227 (1) 57-62
• 38 Church J. In which patients do I perform IRA, and why?. Fam Cancer 2006; 5 (3) 237-240 , discussion 262–2
• 39 Nieuwenhuis MH, Lefevre JH, Bülow S , et al. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study. Dis Colon Rectum 2011; 54 (10) 1229-1234
• 40 Bülow S, Bülow C, Vasen H, Järvinen H, Björk J, Christensen IJ. Colectomy and ileorectal anastomosis is still an option for selected patients with familial adenomatous polyposis. Dis Colon Rectum 2008; 51 (9) 1318-1323
• 41 Wasmuth HH, Tranø G, Myrvold HE, Aabakken L, Bakka A. Adenoma formation and malignancy after restorative proctocolectomy with or without mucosectomy in patients with familial adenomatous polyposis. Dis Colon Rectum 2013; 56 (3) 288-294
• 42 Tajika M, Niwa Y, Bhatia V, Tanaka T, Ishihara M, Yamao K. Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis. World J Gastroenterol 2013; 19 (40) 6774-6783
• 43 Tonelli F, Ficari F, Bargellini T, Valanzano R. Ileal pouch adenomas and carcinomas after restorative proctocolectomy for familial adenomatous polyposis. Dis Colon Rectum 2012; 55 (3) 322-329
• 44 Ozdemir Y, Kalady MF, Aytac E , et al. Anal transitional zone neoplasia in patients with familial adenomatous polyposis after restorative proctocolectomy and IPAA: incidence, management, and oncologic and functional outcomes. Dis Colon Rectum 2013; 56 (7) 808-814
• 45 Spigelman AD, Williams CB, Talbot IC, Domizio P, Phillips RK. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2 (8666) 783-785
• 46 Herraiz M, Barbesino G, Faquin W , et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007; 5 (3) 367-373
• 47 Steinhagen E, Guillem JG, Chang G , et al. The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized. Clin Colorectal Cancer 2012; 11 (4) 304-308
• 48 Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK. Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis. Colorectal Dis 2011; 13 (11) 1222-1229
• 49 Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M. Desmoids and genotype in familial adenomatous polyposis. Dis Colon Rectum 2015; 58 (4) 444-448
• 50 Church, McGannon, Ozuner. The clinical course of intra-abdominal desmoid tumours in patients with familial adenomatous polyposis. Colorectal Dis 1999; 1 (3) 168-173
• 51 Campos FG, Martinez CAR, Novaes M, Nahas SC, Cecconello I. Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis. Fam Cancer 2015; 14 (2) 211-219
• 52 Lev D, Kotilingam D, Wei C , et al. Optimizing treatment of desmoid tumors. J Clin Oncol 2007; 25 (13) 1785-1791
• 53 Yao X, Corbett T, Gupta AA , et al. A systematic review of active treatment options in patients with desmoid tumours. Curr Oncol 2014; 21 (4) e613-e629
• 54 Chugh R, Wathen JK, Patel SR , et al; Sarcoma Alliance for Research through Collaboration (SARC). Efficacy of imatinib in aggressive fibromatosis: Results of a phase II multicenter Sarcoma Alliance for Research through Collaboration (SARC) trial. Clin Cancer Res 2010; 16 (19) 4884-4891
• 55 Groen EJ, Roos A, Muntinghe FL , et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 2008; 15 (9) 2439-2450