Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: Rationale and update

European Journal of Gastroenterology and Hepatology

Volumn 26, Issue 3, 2014, Pages 255-262

  Aihara, Hiroyuki ^a   Kumar, Nitin ^a   Thompson, Christopher C ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Adenomatous polyposis coli gene; Attenuated familial adenomatous polyposis; Familial adenomatous polyposis; Genetic testing; Human MutY homolog associated polyposis

Indexed keywords

ADENOMATOUS POLYPOSIS COLI; ANTICARCINOGENIC AGENTS; CAPSULE ENDOSCOPY; GENES, APC; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; MUTATION; POPULATION SURVEILLANCE; PROCTOCOLECTOMY, RESTORATIVE;

EID: 84895074157     PISSN: 0954691X     EISSN: 14735687     Source Type: Journal    
DOI: 10.1097/MEG.0000000000000010     Document Type: Review

References (97)

1. Bussey H. Familial polyposis coli. Baltimore: Johns Hopkins University Press; 1975.
2. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991; 253: 665-669.
3. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253: 661-665.
4. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: 589-600.
5. Wennstrom J, Pierce ER, McKusick VA. Hereditary benign and malignant lesions of the large bowel. Cancer 1974; 34:850.
6. Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1990; 100: 1658-1664.
7. Brosens LA, Keller JJ, Offerhaus GJ, Goggins M, Giardiello FM. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut 2005; 54: 1034-1043.
8. Offerhaus GJ, Giardiello FM, Krush AJ, Booker SV, Tersmette AC, Kelley NC, Hamilton SR. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992; 102: 1980-1982.
9. Gurbuz AK, Giardiello FM, Petersen GM, Krush AJ, Offerhaus GJ, Booker SV, et al. Desmoid tumors in familial adenomatous polyposis. Gut 1993; 35: 377-381.
10. Gardner EJ. Follow-up study of a group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas, and epidermal cysts. Am J Hum Genet 1962; 14: 376-390.
11. Søndergaard JO, Bülow S, Järvinen H, Wolf J, Witt IN, Tetens G. Dental anomalies in familial adenomatous polyposis coli. Acta Odontol Scand 1987; 45: 61-63.
12. Traboulsi EI, Murphy S, Dela ZC, Maumenee IH, Green WR. A clinicopathological study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner syndrome). Am J Ophthalmol 1990; 110: 550-561.
13. Giardiello FM, Offerhaus GJA, Krush AJ, Booker SV, Tersmette AC, Mulder JW, et al. The risk of hepatoblastoma in familial adenomatous polyposis. J Pediatrics 1991; 119: 766-768.
14. Giardiello FM, Offerhaus GJA, Lee DH, Krush AJ, Tersmette AC, Booker SV, et al. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut 1993; 34: 1394-1396.
15. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, et al. The molecular basis of Turcot syndrome. N Engl J Med 1995; 332: 839-847.
16. Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet 2007; 71: 427-433.
17. 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: e243-e249.
18. Kinzler KW, Vogelstein B. Colorectal tumors. The genetic basis of human cancer. New York: McGraw-Hill; 1998. pp. 269-270.
19. Van de Wetering M, Sancho E, Verweij C, de Lau W, Oving I, Hurlstone A, et al. The beta-catenin/TCF-4 complex imposes a crypt progenitor phenotype on colorectal cancer cells. Cell 2002; 111: 241-250.
20. Aoki K, Taketo MM. Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene. J Cell Sci 2007; 120: 3327-3335.
21. Friedl W, Aretz S. Familial adenomatous polyposis: experience from a study of 1164 unrelated German polyposis patients. Hered Cancer Clin Pract 2005; 3: 95-114.
22. Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck 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.
23. Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, et al. Hereditary Colorectal Tumor Registry. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 2003; 21: 1698-1707.
24. Spirio L, Olschwang S, Groden J, Robertson M, SamowitzW, Joslyn G, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993; 75: 951-957.
25. Giardiello FM, Brensinger JD, Luce MC, Petersen GM, Cayouette MC, Krush AJ, et al. Phenotypic expression in adenomatous polyposis families with mutation in the 50 region of the adenomatous polyposis coli gene. Ann Intern Med 1997; 126: 514-519.
26. Brensinger JD, Laken SJ, Luce MC, Powell SM, Vance GH, Ahnen DJ, et al. Variable phenotype of familial adenomatous polyposis in pedigrees with 30 mutations in the APC gene. Gut 1998; 43: 548-552.
27. Hes FJ, Nielsen M, Bik EC, Konvalinka D,Wijnen JT, Bakker E, et al. Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut 2007; 57: 71-76.
28. Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, et al. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 1992; 52: 4055-4057.
29. Wallis YL, Morton DG, McKeown CM, Macdonald F. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 1999; 36: 14-20.
30. Nieuwenhuis MH, Vasen HF. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol 2007; 61: 153-161.
31. Rai K, Sarkar S, Broadbent TJ, Voas M, Grossmann KF, Nadauld LD, et al. DNA demethylase activity maintains intestinal cells in an undifferentiated state following loss of APC. Cell 2010; 142: 930-942.
32. National Comprehensive Cancer Network. National Comprehensive Cancer Network NCCN colorectal cancer screening practice guidelines. Oncology 1999; 13: 152-179.
33. Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, et al. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or ''multiple'' colorectal adenomas. Proc Natl Acad Sci USA 2002; 99: 2954-2958.
34. Aretz S, Stienen D, Uhlhaas S, Pagenstecher C, Mangold E, Caspari R, et al. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 2005; 42: 185-192.
35. Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miki Y, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992; 89: 4452-4456.
36. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329: 1982-1987.
37. Bunyan DJ, Eccles DM, Sillibourne J,Wilkins E, Thomas NS, Shea-Simonds J, et al. Dosage analysis of cancer predisposition genes by multiplex ligationdependent probe amplification. Br J Cancer 2004; 91: 1155-1159.
38. Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, et al. Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat 2005; 25: 125-134.
39. Smith-Ravin J, Pack K, Hodgson S, Tay SK, Phillips R, Bodmer W. APC mutation associated with late onset of familial adenomatous polyposis. J Med Genet 1994; 31: 888-90.
40. Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1991; 100: 1658-1664.
41. Winawer S, Fletcher R, Rex D, Bond J, Burt R, Ferrucci J, et al. Colorectal cancer screening and surveillance: clinical guidelines, evidence, and rationale. Gastroenterology 1997; 112: 594-642.
42. Burt RW, Cannon JA, David S, Ford JM, Giardiello FM, Halvers AL, et al. NCCN Clinical Practice Guidelines in Oncology; Colorectal Cancer Screening [Online, 4 Aug 2013]. www.nccn.org.
43. Abraham SC, Nobukawa B, Giardiello FM, Hamilton SR, Wu TT. Sporadic fundic gland polyps: common gastric polyps arising through activating mutations in the beta-catenin gene. Am J Pathol 2001; 158: 1005-1010.
44. Burt RW. Gastric fundic gland polyps. Gastroenterology 2003; 125: 1462-1469.
45. Zwick A, Munir M, Ryan CK, Gian J, Burt RW, Leppert M, et al. Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli. Gastroenterology 1997; 113: 659-663.
46. Hofgartner WT, Thorp M, Ramus MW, Delorefice G, Chey WY, Ryan CK, et al. Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol 1999; 94: 2275-2281.
47. Wallace MH, Phillips RK. Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 1998; 85: 742-750.
48. Spigelman AD, Williams CB, Talbot IC, Domizio P, Phillips RK. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2: 783-785.
49. Iida M, Yao T, Itoh H,Watanabe H, Matsui T, Iwashita A, Fujishima M. Natural history of duodenal lesions in Japanese patients with familial adenomatosis coli (Gardner's syndrome). Gastroenterology 1989; 96: 1301-1306.
50. Iida M, Aoyagi K, Fujimura Y, Matsumoto T, Hizawa K, Nakamura S. Nonpolypoid adenomas of the duodenum in patients with familial adenomatous polyposis (Gardner's syndrome). Gastrointest Endosc 1996; 44: 305-308.
51. Groves CJ, Saunders BP, Spigelman AD, Phillips RK. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 2002; 50: 636-641.
52. Ruys AT, Alderlieste YA, Gouma DJ, Dekker E, Mathus-Vliegen EM. Jejunal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2010; 8: 731-733.
53. Sidhu R, Sanders DS, Morris AJ, McAlindon ME. Guidelines on small bowel enteroscopy and capsule endoscopy in adults. Gut 2008; 57: 125-136.
54. Claes K, Dahan K, Tejpar S, De Paepe A, Bonduelle M, Abramowicz M, et al. The genetics of familial adenomatous polyposis (FAP) and MutYHassociated polyposis (MAP). Acta Gastroenterol Belg 2011; 74: 421-426.
55. Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, Gallinger S. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 2006; 15: 312-314.
56. Zorcolo L, Fantola G, Balestrino L, Restivo A, Vivanet C, Spina F, et al. MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. Tumori 2011; 97: 676-680.
57. Lefevre JH, Rodrigue CM, Mourra N, Bennis M, Flejou JF, Parc R, et al. Implication of MYH in colorectal polyposis. Ann Surg 2006; 244: 874-879.
58. Jasperson KW. Genetic testing by cancer site: colon (polyposis syndromes). Cancer J 2012; 18: 328-333.
59. Bilkay U, Erdem O, Ozek C, Helvaci E, Kilic K, Ertan Y, Gurler T. Benign osteoma with Gardner syndrome: review of the literature and report of a case. J Craniofac Surg 2004; 15: 506-509.
60. Bussey HJ, Veale AM, Morson BC. Genetics of gastrointestinal polyposis. Gastroenterology 1978; 74: 1325-1330.
61. Sturt NJ, Clark SK. Current ideas in desmoid tumours. Fam Cancer 2006; 5: 275-285.
62. Clark SK, Neale KF, Landgrebe JC, Phillips RK. Desmoid tumours complicating familial adenomatous polyposis. Br J Surg 1999; 86: 1185-1189.
63. Nieuwenhuis MH, De Vos Tot Nederveen Cappel W, Botma A, Nagengast FM, Kleibeuker JH, Mathus-Vliegen EM, et al. Desmoid tumors in a Dutch cohort of patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 215-219.
64. Touriño R, Conde-Freire R, Cabezas-Agrícola JM, Rodríguez-Aves T, López-Valladares MJ, Otero-Cepeda JL, Capeans C. Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol 2004; 25: 101-112.
65. Bläker H, Sutter C, Kadmon M, Otto HF, Von Knebel-Doeberitz M, Gebert J, Helmke BM. Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli. Genes Chromosomes Cancer 2004; 41: 93-98.
66. Giardiello FM, Hamilton SR, Krush AJ, Offerhaus JA, Booker SV, Petersen GM. Nasopharyngeal angiofibroma in patients with familial adenomatous polyposis. Gastroenterology 1993; 105: 1550-1552.
67. Bisgaard ML, Bülow S. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A 2006; 140: 200-204.
68. Turcot J, Despres JP St, Pierre F. Malignant tumors of the central nervous system associated with familial. Dis Colon Rectum 1959; 2: 465-468.
69. Tops CMJ, Vasen HFA, van Berge Henegouwen G, Simoons PP, van de Klift HM, van Leeuwen SJ, et al. Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. Am J Med Genet 1992; 43: 888-893.
70. Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997; 15: 2744-2758.
71. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995; 332:839.
72. Kastrinos F, Syngal S. Inherited colorectal cancer syndromes. Cancer J 2011; 17: 405-415.
73. Tsujii M, DuBois RN. Alterations in cellular adhesion and apoptosis in epithelial cells overexpressing prostaglandin endoperoxide synthase 2. Cell 1995; 83: 493-501.
74. Tsujii M, Kawano S, Tsuji S, Sawaoka H, Hori M, Dubois RN. Cyclooxygenase regulates angiogenesis induced by colon cancer cells. Cell 1998; 93: 705-716.
75. Giardiello FM, Offerhaus GJ, DuBois RN. The role of nonsteroidal antiinflammatory drugs in colorectal cancer prevention. Eur J Cancer 1995; 31A: 1071-1076.
76. Tonelli F, Valanzano R, Messerini L, Ficari F. Long-term treatment with sulindac in familial adenomatous polyposis: is there an actual efficacy in prevention of rectal cancer? J Surg Oncol 2000; 74: 15-20.
77. Matsumoto T, Nakarmura S, Esaki M, Yao T, Iida M. Effect of the nonsteroidal anti-inflammatory drug sulindac on colorectal adenomas of uncolectomized familial adenomatous polyposis. J Gastroenterol Hepatol 2006; 21: 251-257.
78. Giardiello FM, Hamilton SR, Krush AJ, Piantadosi S, Hylind LM, Celano P, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 1993; 328: 1313-1316.
79. Cruz-Correa M, Hylind LM, Romans KE, Booker SV, Giardiello FM. Longterm treatment with sulindac in familial adenomatous polyposis: a prospective cohort study. Gastroenterology 2002; 122: 641-645.
80. Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB, et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 2000; 342: 1946-1952.
81. Solomon SD, McMurray JJV, Pfeffer MA, Wittes J, Fowler R, Finn P, et al. Cardiovascular risk associated with celecoxib in a clinical trial for colorectal adenoma prevention. N Engl J Med 2005; 352: 1071-1080.
82. Baron JA, Sandler RS, Bresalier RS, Lanas A, Morton DG, Riddell R, et al. Cardiovascular events associated with rofecoxib: final analysis of the APPROVe trial. Lancet 2008; 372: 1756-1764.
83. Solomon SD, Wittes J, Finn PV, Fowler R, Viner J, Bertagnolli MM. Cardiovascular risk of celecoxib in 6 randomized placebo-controlled trials: the cross trial safety analysis. Circulation 2008; 117: 2104-2113.
84. Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 2011; 378: 2081-2087.
85. Matsumoto T, Esaki M, Fujisawa R, Nakamura S, Yao T, Iida M. 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.
86. Picasso M, Filiberti R, Blanchi S, Conio M. The role of chromoendoscopy in the surveillance of the duodenum of patients with familial adenomatous polyposis. Dig Dis Sci 2007; 52: 1906-1909.
87. Dekker E, Boparai KS, Poley JW, Mathus-Vliegen EM, Offerhaus GJ, Kuipers EJ, 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.
88. Lopez-Ceron M, van den Broek FJ, Mathus-Vliegen EM, Boparai KS, van Eeden S, Fockens P, Dekker E. The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis. Gastrointest Endosc 2013; 77: 542-550.
89. Iaquinto G, Fornasarig M, Quaia M, Giardullo N, D'Onofrio V, Iaquinto S, et al. Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc 2008; 67: 61-67.
90. Wong RF, Tuteja AK, Haslem DS, Pappas L, Szabo A, Ogara MM, DiSario JA. Video capsule endoscopy compared with standard endoscopy for the evaluation of small-bowel polyps in persons with familial adenomatous polyposis (with video). Gastrointest Endosc 2006; 64: 530-537.
91. Tescher P, Macrae FA, Speer T, Stella D, Gibson R, Tye-Din JA, et al. Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps. Hered Cancer Clin Pract 2010; 8:3.
92. Schulmann K, Hollerbach S, Kraus K, Willert J, Vogel T, Möslein G, 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.
93. Katsinelos P, Kountouras J, Chatzimavroudis G, Zavos C, Pilpilidis I, Fasoulas K, et al. Wireless capsule endoscopy in detecting small-intestinal polyps in familial adenomatous polyposis. World J Gastroenterol 2009; 15: 6075-6079.
94. Günther U, Bojarski C, Buhr HJ, Zeitz M, Heller F. Capsule endoscopy in small-bowel surveillance of patients with hereditary polyposis syndromes. Int J Colorectal Dis 2010; 25: 1377-1382.
95. Yamada A,Watabe H, Iwama T, Obi S, Omata M, Koike K. The prevalence of small intestinal polyps in patients with familial adenomatous polyposis: a prospective capsule endoscopy study. Fam Cancer 2013 [Epub ahead of print] doi: 10.1007/s10689-013-9668-1.
96. Plum N, May A, Manner H, Ell C. Small-bowel diagnosis in patients with familial adenomatous polyposis: comparison of push enteroscopy, capsule endoscopy, ileoscopy, and enteroclysis. Z Gastroenterol 2009; 47: 339-346.
97. Mönkemüller K, Fry LC, Ebert M, Bellutti M, Venerito M, Knippig C, et al. Feasibility of double-balloon enteroscopy-assisted chromoendoscopy of the small bowel in patients with familial adenomatous polyposis. Endoscopy 2007; 39:52-57.