Familial adenomatous polyposis: Clinical presentation, detection and surveillance

Acta Gastro-Enterologica Belgica

Volumn 74, Issue 3, 2011, Pages 415-420

  Laurent, S ^a,b   Franchimont, D ^a,c   Coppens, J P ^a,d   Leunen, K ^a,e   Macken, L ^a,f   Peeters, M ^a,f   Plomteux, O ^a,g   Polus, M ^a,h   Poppe, B ^a,b   Sempoux, C ^a,i   Tejpar, S ^a,e   van Den E M , Eynde M ^a,i   van Gossum, A ^a,c   Vannoote, J ^a,e   Kartheuser, A ^a,i   van Cutsem, E ^a,e  

^a Familial Adenomatous Polyposis Association FAPA   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c ERASME HOSPITAL   (Belgium)

^d Clinique Notre Dame de Grace   (Belgium)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g Clinique Saint Joseph   (Belgium)

^h UNIVERSITY OF LIÈGE   (Belgium)

ⁱ CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; IMATINIB;

ADENOMATOUS POLYP; ARTICLE; CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER RISK; CANCER SCREENING; CANCER STAGING; CLINICAL ASSESSMENT; COLORECTAL CANCER; DESMOID TUMOR; EPIDEMIOLOGICAL DATA; FAMILIAL DISEASE; GENE MUTATION; HIGH RISK POPULATION; HUMAN; RECTUM ADENOMA;

ADENOMATOUS POLYPOSIS COLI; DISEASE PROGRESSION; HUMANS; INCIDENCE; MASS SCREENING; POPULATION SURVEILLANCE; RISK FACTORS;

EID: 80053588520     PISSN: 00015644     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (68)

1. BISGAARD M.L., RIPA R.S., BULOW S. Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). Hum. Mutat., 2004, 23: 522.
2. LYNCH H.T., DE LA CHAPELLE A. Hereditary colorectal cancer. N. Engl. J. Med., 2003, 348: 919-932.
3. KINZLER K.W., NILBERT M.C., VOGELSTEIN B., BRYAN T.M., LEVY D.B., SMITH K.J., PREISINGER A.C., HAMILTON S.R., HEDGE P., MARKHAM A. et al. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science, 1991, 251: 1366-1370.
4. BURT R.W., BISHOP D.T., LYNCH H.T., ROZEN P., WINAWER S.J. 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.
5. SIEBER O.M., LAMLUM H., CRABTREE M.D., ROWAN A.J., BARCLAY E., LIPTON L., HODGSON S., THOMAS H.J., NEALE K., PHILLIPS R.K., FARRINGTON S.M., DUNLOP M.G., MUELLER H.J., BISGAARD M.L., BULOW S., FIDALGO P., ALBUQUERQUE C., SCARANO M.I., BODMER W., TOMLINSON I.P., HEINIMANN K. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or multiple colorectal adenomas. Proc. Natl. Acad. Sci. USA, 2002, 9: 2954-2958.
6. MICHILS G., TEJPAR S., THOELEN R., VAN CUTSEM E., VERMEESCH J.R., FRYNS J.P., LEGIUS E., MATTHIJS G. 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.
7. GALIATSATOS P., FOULKES W.D. Familial adenomatous polyposis. Am. J. Gastroenterol., 2006, 101: 385-398.
8. BJORK 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: 1230-1235.
9. IWAMA T., TAMURA K., MORITA T., HIRAI T., HASEGAWA H., KOIZUMI K., SHIROUZU K., SUGIHARA K., YAMAMURA T., MUTO T., UTSUNOMIYA J. 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: 308-316.
10. BULOW S., ALM T., FAUSA O., HULTCRANTZ R., JARVINEN H., VASEN H. Duodenal adenomatosis in familial adenomatous polyposis. DAF Project Group. Int. J. Colorectal. Dis., 1995, 10: 43-46.
11. BERTONI G., SASSATELLI R., NIGRISOLI E., PENNAZIO M., TANSINI P., ARRIGONI A., PONZ DE LEON M., ROSSINI F.P., BEDOGNI G. High prevalence of adenomas and microadenomas of the duodenal papilla and periampullary region in patients with familial adenomatous polyposis. Eur. J. Gastroenterol. Hepatol., 1996, 8: 1201-1206.
12. ARVANITIS M.L., JAGELMAN D.G., FAZIO V.W., LAVERY I.C., MC GANNON E. Mortality in patients with familial adenomatous polyposis. Colon Rectum, 1990, 33: 639-642.
13. GALLAGHER M.C., PHILLIPS R.K., BULOW S. Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis. Fam. Cancer, 2006, 5: 263-273.
14. BULOW S., BJORK J., CHRISTENSEN I.J., FAUSA O., JARVINEN H., MOESGAARD F., VASEN H.F., DAF STUDY GROUP. Duodenal adenomatosis in familial adenomatous polyposis. Gut, 2004, 53: 381-386.
15. WATANABE H., ENJOJI M., YAO T., OHSATO K. Gastric lesions in familial adenomatosis coli: their incidence and histologic analysis. Hum. Pathol., 1978, 9: 269-283.
16. IIDA M., YAO T., ITOH H., WATANABE H., KOHROGI N., SHIGEMATSU A., IWASHITA A., FUJISHIMA M. Natural history of fundic gland polyposis in patients with familial adenomatosis coli/Gardner's syndrome. Gastroenterology, 1985, 89: 1021-1025.
17. SARRE R.G., FROST A.G., JAGELMAN D.G., PETRAS R.E., SIVAK M.V., MC GANNON E. Gastric and duodenal polyps in familial adenomatous polyposis: a prospective study of the nature and prevalence of upper gastrointestinal polyps. Gut, 1987, 28: 306-314.
18. CHURCH J.M., MCGANNON E., HULL-BOINER S., SIVAK M.V., VAN STOLK R., JAGELMAN D.G., FAZIO V.W., OAKLEY J.R., LAVERY I.C., MILSOM J.W. Gastroduodenal polyps in patients with familial adenomatous polyposis. Dis. Colon Rectum, 1992, 35: 1170-1173.
19. KINOSHITA Y., TOJO M., YANO T., KITAJIMA N., ITOH T., NISHIYAMA K., INATOME T., FUKUZAKI H., WATANABE M., CHIBA T. Incidence of fundic gland polyps in patients without familial adenomatous polyposis. Gastrointest. Endosc., 1993, 39: 161-163.
20. MARCIAL M.A., VILLAFANA M., HERNANDEZ-DENTON J., COLON-PAGAN J.R. Fundic gland polyps: prevalence and clinicopatholo - gic features. Am. J. Gastroenterol., 1993, 88: 1711-1713.
21. WU T.T., KORNACKI S., RASHID A., YARDLEY J.H., HAMILTON S.R. Dysplasia and dysregulation of proliferation in foveolar and surface epithelia of fundic gland polyps from patients with familial adenomatous polyposis. Am. J. Surg. Pathol., 1998, 22: 293-298.
22. COFFEY R.J. JR., KNIGHT C.D. JR., VAN HEERDEN J.A., WEILAND L.H. Gastric adenocarcinoma complicating Gardner's syndrome in a North American woman. Gastroenterology, 1985, 88: 1263-1266.
23. GOODMAN A.J., DUNDAS S.A., SCHOLEFIELD J.H., JOHNSON B.F. Gastric carcinoma and familial adenomatous polyposis (FAP). Int. J. Colo - rectal Dis., 1988, 3: 201-203.
24. ZWICK A., MUNIR M., RYAN C.K., GIAN J., BURT R.W., LEPPERT M., SPIRIO L., CHEY W.Y. Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli. Gastro enterology, 1997, 113: 659-663.
25. HOFGARTNER W.T., THORP M., RAMUS M.W., DELOREFICE G., CHEY W.Y., RYAN C.K., TAKAHASHI G.W., LOBITZ J.R. Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am. J. Gastroenterol., 1999, 94: 2275-2281.
26. RUHSWURM I., ZEHETMAYER M., DEJACO C., WOLF B., KARNER-HANUSCH J. Ophthalmic and genetic screening in pedigrees with familial adenomatous polyposis. Am. J. Ophthalmol., 1998, 125: 680-686.
27. ROMANIA A., ZAKOV Z.N., MC GANNON E., SCHROEDER T., HEYEN F., JAGELMAN D.G. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Ophthalmology, 1989, 96: 879-884.
28. TRABOULSI E.I., KRUSH A.J., GARDNER E.J., BOOKER S.V., OFFERHAUS G.J., YARDLEY J.H., HAMILTON S.R., LUK G.D., GIARDIELLO F.M., WELSH S.B. et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N. Engl. J. Med., 1987, 316: 661-667.
29. MORTON D.G., GIBSON J., MACDONALD F., BROWN R., HAYDON J., CULLEN R., RINDL M., HULTEN M., NEOPTOLEMOS J.P., KEIGHLEY M.R. et al. Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis. Br. J. Surg., 1992, 79: 689-693.
30. OLSCHWANG S., TIRET A., LAURENT-PUIG P., MULERIS M., PARC R., THOMAS G. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell, 1993, 75: 959-968.
31. SORAVIA C., BERK T., MCLEOD R.S., COHEN Z. Desmoid disease in patients with familial adenomatous polyposis. Dis. Colon Rectum, 2000, 43: 363-369.
32. STURT N.J., GALLAGHER M.C., BASSETT P., PHILP C.R., NEALE K.F., TOMLINSON I.P., SILVER A.R., PHILLIPS R.K. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut, 2004, 53: 1832-1836.
33. PENNA C., TIRET E., PARC R., SFAIRI A., KARTHEUSER A., HANNOUN L., NORDLINGER B. Operation and abdominal desmoid tumors in familial adenomatous polyposis. Surg. Gynecol. Obstet., 1993, 177: 263-268.
34. CLARK S.K., NEALE K.F., LANDGREBE J.C., PHILLIPS R.K. Desmoid tumours complicating familial adenomatous polyposis. Br. J. Surg., 1999, 86: 1185-1189.
35. BERTARIO L., RUSSO A., SALA P., VARESCO L., GIAROLA M., MONDINI P., PIEROTTI M., SPINELLI P., RADICE P. Hereditary Colorectal Tumor Registry. Multiple approach to the exploration of genotype- phenotype correlations in familial adenomatous polyposis. J. Clin. Oncol., 2003, 21: 1698-1707.
36. HEISKANEN I., JARVINEN H.J. Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. Int. J. Colorectal Dis., 1996, 11: 157-162.
37. BUS P.J., VERSPAGET H.W., VAN KRIEKEN J.H., DE ROOS A., KEIZER H.J., BEMELMAN WA., VASEN H.F., LAMERS C.B., GRIFFIOEN G. Treatment of mesenteric desmoid tumours with the antioestrogenic agent toremifene: case histories and an overview of the literature. Eur. J. Gastroenterol. Hepatol., 1999, 11: 1179-1183.
38. CHURCH J., BERK T., BOMAN B.M., GUILLEM J., LYNCH C., LYNCH P., RODRIGUEZ-BIGAS M., RUSIN L., WEBER T. Collaborative Group of the Americas on Inherited Colorectal Cancer. Staging intraabdominal desmoid tumors in familial adenomatous polyposis: a search for a uniform approach to a troubling disease. Dis. Colon Rectum, 2005, 48: 1528-1534.
39. MACE J., SYBIL BIERMANN J., SONDAK V., MCGINN C., HAYES C., THOMAS D., BAKER L. Response of extraabdominal desmoid tumors to therapy with imatinib mesylate. Cancer, 2002, 95: 2373-2379.
40. HEINRICH M.C., MCARTHUR G.A., DEMETRI G.D., JOENSUU H., BONO P., HERRMANN R., HIRTE H., CRESTA S., KOSLIN D.B., CORLESS C.L., DIRNHOFER S., VAN OOSTEROM A.T., NIKOLOVA Z., DIMITRIJEVIC S., FLETCHER J.A. Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). J. Clin. Oncol., 2006, 24: 1195-1203.
41. BULOW C., BULOW S. Is screening for thyroid carcinoma indicated in familial adenomatous polyposis? The Leeds Castle Polyposis Group. Int. J. Colorectal Dis., 1997, 12: 240-2.
42. TRUTA B., ALLEN B.A., CONRAD P.G., KIM Y.S., BERK T., GALLINGER S., BAPAT B., TERDIMAN J.P., SLEISENGER M.H. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam. Cancer, 2003, 2: 95-99.
43. PERRIER N.D., VAN HEERDEN J.A., GOELLNER J.R., WILLIAMS E.D., GHARIB H., MARCHESA P., CHURCH J.M., FAZIO V.W., LARSON D.R. Thyroid cancer in patients with familial adenomatous polyposis. World J. Surg., 1998, 22: 738-742.
44. HUGHES L.J., MICHELS V.V. Risk of hepatoblastoma in familial adenomatous polyposis. Am. J. Med. Genet., 1992, 43: 1023-1025.
45. GIARDIELLO F.M., PETERSEN G.M., BRENSINGER J.D., LUCE M.C., CAYOUETTE M.C., BACON J., BOOKER S.V., HAMILTON S.R. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut, 1996, 39: 867-869.
46. KUWADA S.K., BURT R.W. The clinical features of the hereditary and nonhereditary polyposis syndromes. Surg. Oncol. Clin. N. Am., 1996, 5: 553-567.
47. GARDNER E.J., RICHARDS R.C. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am. J. Hum. Genet., 1953; 5: 139-147.
48. HAMILTON S.R., LIU B., PARSONS R.E., PAPADOPOULOS N., JEN J., POWELL S.M., KRUSH A.J., BERK T., COHEN Z., TETU B. The molecular basis of Turcot's syndrome. N. Engl. J. Med., 1995, 332: 839-847.
49. SPIRIO L., OLSCHWANG S., GRODEN J., ROBERTSON M., SAMOWITZ W., JOSLYN G., GELBERT L., THLIVERIS A., CARLSON M., OTTERUD B. et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell, 1993, 75: 951-957.
50. VAN DER LUIJT R.B., MEERA KHAN P., VASEN H.F., BREUKEL C., TOPS C.M., SCOTT R.J., FODDE R. Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum. Genet., 1996, 98: 727-734.
51. BURT R.W., LEPPERT M.F., SLATTERY M.L., SAMOWITZ W.S., SPIRIO L.N., KERBER R.A., KUWADA S.K., NEKLASON D.W., DISARIO J.A., LYON E., HUGHES J.P., CHEY W.Y., WHITE R.L. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology, 2004, 127: 444-451.
52. LYNCH H.T., SMYRK T., MCGINN T., LANSPA S., CAVALIERI J., LYNCH J., SLOMINSKI-CASTOR S., CAYOUETTE M.C., PRILUCK I., LUCE M.C. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer, 1995, 76: 2427-2433.
53. SIEBER O.M., LIPTON L., CRABTREE M., HEINIMANN K., FIDALGO P., PHILLIPS R.K., BISGAARD M.L., ORNTOFT T.F., AALTONEN L.A., HODGSON S.V., THOMAS H.J., TOMLINSON I.P. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N. Engl. J. Med., 2003, 348: 791-799.
54. SAMPSON J.R., DOLWANI S., JONES S., ECCLES D., ELLIS A., EVANS D.G., FRAYLING I., JORDAN S., MAHER E.R., MAK T., MAYNARD J., PIGATTO F., SHAW J., CHEADLE J.P. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet, 2003, 362: 39-41.
55. HEISKANEN I., LUOSTARINEN T., JARVINEN H.J. Impact of screening examinations on survival in familial adenomatous polyposis. Scand. J. Gastroenterol., 2000, 35: 1284-1287.
56. KAZ A.M., BRENTNALL T.A. Genetic testing for colon cancer. Nat. Clin. Pract. Gastroenterol. Hepatol., 2006 ; 3: 670-679.
57. WINAWER S., FLETCHER R., REX D., BOND J., BURT R., FERRUCCI J., GANIATS T., LEVIN T., WOOLF S., JOHNSON D., KIRK L., LITIN S., SIMMANG C. Gastrointestinal Consortium Panel. Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence. Gastroenterology, 2003, 124: 544-560.
58. VASEN H.F., MÖSLEIN G., ALONSO A., ARETZ S., BERNSTEIN I., BERTARIO L., BLANCO I., BÜLOW S., BURN J., CAPELLA G., COLAS C., ENGEL C., FRAYLING I., FRIEDL W., HES F.J., HODGSON S., JÄRVINEN H., MECKLIN J.P., MØLLER P., MYRHØI T., NAGENGAST F.M., PARC Y., PHILLIPS R., CLARK S.K., DE LEON M.P., RENKONEN-SINISALO L., SAMPSON J.R., STORMORKEN A., TEJPAR S., THOMAS H.J., WIJNEN J. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 2008 ; 57: 704-713.
59. HERNEGGER G.S., MOORE H.G., GUILLEM J.G. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis. Colon Rectum, 2002, 45: 127-134.
60. GUILLEM J.G., WOOD W.C., MOLEY J.F., BERCHUCK A., KARLAN B.Y., MUTCH D.G., GAGEL R.F., WEITZEL J., MORROW M., WEBER B.L., GIARDIELLO F., RODRIGUEZ-BIGAS M.A., CHURCH J., GRUBER S., OFFIT K. ASCO ; SSO. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J. Clin. Oncol., 2006, 24: 4642-4660.
61. GIARDIELLO F.M., BRENSINGER J.D., PETERSEN G.M. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology, 2001, 121: 198-213.
62. SAURIN J.C., GUTKNECHT C., NAPOLEON B., CHAVAILLON A., ECOCHARD R., SCOAZEC J.Y., PONCHON T., CHAYVIALLE J.A. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J. Clin. Oncol., 2004, 22: 493-498.
63. GUILLEM J.G., SMITH A.J., CALLE J.P., RUO L. Gastrointestinal polyposis syndromes. Curr. Probl. Surg., 1999, 36: 217-323.
64. CHURCH J., SIMMANG C. Standards Task Force ; American Society of Colon and Rectal Surgeons ; Collaborative Group of the Americas on Inherited Colorectal Cancer and the Standards Committee of The American Society of Colon and Rectal Surgeons. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis. Colon Rectum, 2003, 46: 1001-1012.
65. GIARDIELLO F.M., HAMILTON S.R., KRUSH A.J., PIANTADOSI S., HYLIND L.M., CELANO P., BOOKER S.V., ROBINSON C.R., OFFERHAUS G.J. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N. Engl. J. Med., 1993, 328: 1313-1316.
66. STEINBACH G., LYNCH P.M., PHILLIPS R.K., WALLACE M.H., HAWK E., GORDON G.B., WAKABAYASHI N., SAUNDERS B., SHEN Y., FUJIMURA T., SU L.K., LEVIN B. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N. Engl. J. Med., 2000, 342: 1946-1952.
67. HIGUCHI T., IWAMA T., YOSHINAGA K., TOYOOKA M., TAKETO M.M., SUGIHARA K. A randomized, double-blind, placebocontrolled trial of the effects of rofecoxib, a selective cyclooxygenase-2 inhibitor, on rectal polyps in familial adenomatous polyposis patients. Clin. Cancer Res., 2003, 9: 4756-4760.
68. WINDE G., SCHMID K.W., SCHLEGEL W., FISCHER R., OSSWALD H., BUNTE H. Complete reversion and prevention of rectal adenomas in colectomized patients with familial adenomatous polyposis by rectal lowdose sulindac maintenance treatment. Advantages of a low-dose nonsteroidal anti-inflammatory drug regimen in reversing adenomas exceeding 33 months. Dis. Colon Rectum, 1995, 38: 813-830.