Colonic Adenomatous Polyposis Syndromes: Clinical Management

C. Neal Ellis

doi:10.1055/s-0028-1089940

Clinics in Colon and Rectal Surgery, Inhaltsverzeichnis

Clin Colon Rectal Surg 2008; 21(4): 256-262
DOI: 10.1055/s-0028-1089940

Colonic Adenomatous Polyposis Syndromes: Clinical Management

C. Neal Ellis¹

¹Department of Surgery, University of South Alabama College of Medicine, Mobile, Alabama

Abstract

ABSTRACT

Colorectal cancer is one of the major causes of cancer deaths in both men and women. It is estimated that 5 to 10% of patients with colorectal cancer have an inherited germline mutation that predisposes them to cancer. Hereditary colorectal cancer syndromes can be divided into those associated with colonic polyposis – familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (aFAP), and MYH associated polyposis (MAP), and those not associated with colonic polyposis – hereditary nonpolyposis colon cancer (HNPCC). The hereditary polyposes are usually easier to diagnose than HNPCC, but their higher penetrance and variable phenotype pose some difficult problems in management and surveillance. The timing and type of surgical intervention, the management of desmoid risk, the treatment of rectal or pouch neoplasia, and the management of duodenal neoplasia are all questions that must be addressed in patients with FAP or MAP.

KEYWORDS

Familial adenomatous polyposis - attenuated familial polyposis - MYH-associated polyposis - desmoids

Volltext

Referenzen

REFERENCES

1 Church J M, Lowry A, Simmang C. Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer – supporting documentation. Dis Colon Rectum. 2001; 44 1404-1412
2 Guillen J G, Smith A J, Calle J P, Ruo L. Gastrointestinal polyposis syndromes. Curr Probl Surg. 1999; 36(4) 217-323
3 Petersen J M, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology. 1991; 100 1658-1664
4 Berk T, Cohen Z, Bapat B et al.. Negative genetic test results in familial adenomatous polyposis: clinical screening implications. Dis Colon Rectum. 1999; 42(3) 307-310
5 Church J M, McGannon E, Burke C, Clark B. Teenagers with familial adenomatous polyposis: what is their risk for colorectal cancer?. Dis Colon Rectum. 2002; 45 887-889
6 Hernegger G S, Moore H G, Guillem J G. Attenuated familial adenomatous polyposis: and evolving and poorly understood entity. Dis Colonl Rectum. 2002; 45 127-134
7 Giardiello F M, Brensinger J D, Luce M C et al.. Phenotypic expression in adenomatous polyposis families with mutations in the 5′ region of the adenomatous polyposis coli gene. Ann Intern Med. 1997; 126 514-519
8 Sampson J R, Dolwani S, Jones S et al.. Autosomal recessive colorectal polyposis due to inherited mutations of MYH. Lancet. 2003; 362 39-41
9 Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol. 2004; 2(8) 633-638
10 Church J M. Non-cytotoxic drug therapy for intra-abdominal desmoids tumor in patients with familial adenomatous polyposis. Dis Colon Rectum. 1992; 35 29-33
11 Bulow S, Alm T, Fausa O et al.. Duodenal adenomatosis in familial adenomatous polyposis. DAF project group. Int J Colorectal Dis. 1995; 10 43-46
12 Wallace M H, Phillips R KS. Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg. 1993; 85(6) 742-750
13 Groves C J, Saunders B P, Spigelman A D et al.. Duodenal cancer in patients with familial adenomatous polyposis (FAP); results of a 10 year prospective study. Gut. 2002; 50 634-636
14 Burke C, Church J, Beck G. The natural history of upper gastrointestinal adenomas in untreated patients with familial polyposis. Gastrointest Endosc. 1999; 49 358-364
15 Spigelman A D, Phillips R KS. The upper gastrointestinal tract. In: Phillips RKS, Spigelman AD, Thompson JPS Familial Adenomatous Polyposis and Other Polyposis Syndromes. London; Edward Arnold 1994: 106-127
16 Jarvinen H, Nyberg M, Pettokailio P. Upper gastrointestinal tract polyps in familial adenomatous coli. Gut. 1983; 24 333-339
17 Park J G, Park K J, Ahn Y o et al.. Risk of gastric cancer among Korean familial adenomatous polyposis patients. Dis Colon Rectum. 1992; 35 996-998
18 Iwama T, Mishima Y, Utsunomiya J. The impact of familial adenomatous polyposis on the tumorigenesis and mortality at several organs; its rational treatment. Ann Surg. 1993; 217 101-108
19 Offerhaus G J, Giardiello F M, Krush A J et al.. The risk of gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology. 1992; 102 1980-1982
20 Burt R W. Polyposis syndromes. In: Yamada T, Alpers DH, Oywang C, Powell DW, Silerstein FE Textbook of Gastroenterology. 2nd ed. Philadelphia, PA; JB Lippincott 1995
21 Watanabe H, Enjoli M, Yoa T et al.. Gastric lesions in familial adenomatous coli, their incidence and histologic analysis. Hum Pathol. 1978; 9 269-283
22 Eccles D M, VanderLuijt R, Breukel C et al.. Hereditary desmoid disease due to a frame-shift mutation at codon 1924 of the APC gene. Am J Hum Genet. 1996; 59 1193-1201
23 Sorvia C, Berk T, McLeod R S et al.. Desmoid disease in patients with familial adenomatous polyposis. Dis Colon Rectum. 2000; 43 363-369
24 Scott R J, Froggat N J, Trembath R C et al.. Familial infiltrative fibromatosis (desmoid tumors) caused by a recurrent APC gene mutation. Hum Mol Genet. 1996; 5 1921-1924
25 Clark S K, Neale K F, Landgrebe J C et al.. Desmoid tumors complicating familial adenomatous polyposis. Br J Surg. 1999; 86 1185-1189
26 Kinzbrunner B, Ritter S, Domingo J, Rosenthal C J. Remission of rapidly growing desmoid tumors after tamoxifen therapy. Cancer. 1983; 52 2201-2204
27 Clark S K, Phillips R KS. Desmoids in familial adenomatous polyposis. Br J Surg. 1996; 83 1494-1504
28 Reitamo J J, Scheinin T M, Hayry P. The desmoid syndrome; new aspects in the cause, pathogenesis and treatment of the desmoid tumor. Am J Surg. 1986; 151 230-237
29 Bus P J, Verspaget H W, Van Krieken J H et al.. Treatment of mesenteric desmoid tumors and the anti-osteogenic agent toremifene: case histories and an overview of the literature. Eur J Gastroenterol Hepatol. 1999; 11 1179-1183
30 Rodriguez-Bigas M A, Mahoney M C, Karakousis C P et al.. Desmoid tumors in patients with familial adenomatous polyposis. Cancer. 1994; 74 1270-1274
31 Einstein D M, Taglinbue J R, Desai R K. Abdominal desmoids; CT findings in 25 patients. AJR Am J Roentgenol. 1991; 157 275-279
32 Church J M. Familial adenomatous polyposis; a review. Perspect Colon Rectal Surg. 1995; 8 203-225
33 Gurbuz A K, Giardiello F M, Peterson F M et al.. Desmoid tumors in familial adenomatous polyposis. Gut. 1994; 35 377-381
34 Doi K, Iida M, Kohrogi N et al.. Large intra-abdominal desmoid tumors in a patient with familial adenomatous coli; their rapid growth detected by computerized tomography. Am J Gastroenterol. 1993; 88 595-598
35 Penna C, Phillips R K, Tiret E et al.. Surgical polypectomy of duodenal adenomas in familial adenomatous polyposis; experience of two European centers. Br J Surg. 1993; 80 1027-1029
36 Jones S, Emmerson P, Maynard J et al.. Biallelic germline mutations in MYH predispose to multiple colorectal adenomas and somatic G:C (right arrow)T:A mutations. Hum Mol Genet. 2002; 11 2961-2967
37 Venesio T, Molatore S, Catteno F et al.. High frequency of MYH mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology. 2004; 126 1681-1685
38 Church J, Berk T, Boman B et al.. Staging intra-abdominal desmoid tumors in familial adenomatous polyposis: a search for a uniform approach to a troubling disease. Dis Colon Rectum. 2005; 48 1528-1534
39 Tsukada K, Church J M, Jagelman D G et al.. Non-cytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis. Dis Colon Rectum. 1992; 35 29-33
40 Poon R, Smits R, Li C et al.. Cyclooxygenase-two (COX-2) modulates proliferation in aggressive fibromatosis (desmoid tumor). Oncogene. 2001; 20 451-460
41 Hansmann A, Adolph C, Vogel T, Unger A, Moslein G. High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors. Cancer. 2004; 100 612-620
42 Tonelli F, Ficari F, Valanzano R, Brandi M L. Treatment of desmoids and mesenteric fibromatosis in familial adenomatous polyposis with raloxifene. Tumori. 2003; 89 391-396
43 Azzarelli A, Gronchi A, Bertulli R et al.. Low-dose chemotherapy with methotrexate and vinblastine for patients with advanced aggressive fibromatosis. Cancer. 2001; 92 1259-1264
44 Okuno S H, Edmonson J H. Combination chemotherapy for desmoid tumors. Cancer. 2003; 97 1134-1135
45 Poritz L S, Blackstein M, Berk T, Gallinger S, McLeod R S, Cohen Z. Extended follow-up of patients treated with cytotoxic chemotherapy for intra-abdominal desmoid tumors. Dis Colon Rectum. 2001; 44 1268-1273
46 Tzakis A G, Tryphonopoulos P, Faria W et al.. Partial abdominal evisceration, ex vivo resection, and intestinal autotransplantation for the treatment of pathologic lesions of the root of the mesentery. J Am Coll Surg. 2003; 197 770-776
47 Nuyttens J J, Rust P F, Thomas Jr C R, Turrisi III A T. Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors: a comparative review of 22 articles. Cancer. 2000; 88 1517-1523
48 Hawk E, Lubert R, Limburg P. Chemoprevention in hereditary colorectal cancer syndromes. Cancer. 1999; 86 2551-2563
49 Cruz-Carreira M, Hylind L M, Romans K E et al.. Long-term treatment with sulindac in familial adenomatous polyposis: a prospective cohort study. Gastoenterology. 2002; 124 641-645
50 Steinbach G, Lynch P M, Phillips R K et al.. The effect of celecoxib, a cyclooxygenase – 2 inhibitor in familial adenomatous polyposis. N Engl J Med. 2000; 342 1946-1952
51 Tonelli F, Valanzano R, Messerini L et al.. Long-term treatment with sulindac in familial adenomatous polyposis: is there an actual efficacy in prevention or rectal cancer. J Surg Oncol. 2000; 74 15-20
52 Lynch H T, Thorson A G, Smyrk T. Rectal cancer after prolonged sulindac chemoprevention: a case report. Cancer. 1995; 75 936-938
53 Van Duijvendijk P, Slors J F, Taat C W et al.. Quality of life after total colectomy with ileorectal anastomosis or proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg. 2000; 87 590-596
54 Church J M, Fazio V W, Lavery I C et al.. Quality of life after prophylactic colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis. Dis Colon Rectum. 1996; 39 1404-1408
55 Bulow C, Vasen H, Jarvinen H et al.. Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology. 2000; 119 1454-1460
56 Bussey H J, Eyers A A, Ritchie S M, Thompson J P. The rectum in adenomatous polyposis: the St. Mark's policy. Br J Surg. 1985; 72 529-531
57 Madden M V, Neale K F, Nicholls R J et al.. Comparison of morbidity and function after colectomy with ileorectal anastomosis or restorative proctocolectomy for familial adenomatous polyposis. Br J Surg. 1991; 78 789-792
58 Jagelman D G. Choice of operation in familial adenomatous polyposis. World J Surg. 1991; 15 47-49
59 Ambroze W L, Dozois R R, Pemberton G H et al.. Familial adenomatous polyposis: results following ileal-pouch anal anastomosis and ileorectostomy. Dis Colon Rectum. 1992; 35 12-15
60 DeCosse J J, Bulow S, Neale K et al.. Rectal cancer risk in patients treated for familial adenomatous polyposis. Br J Surg. 1992; 79(12) 1372-1375
61 Heiskanen I, Harvinen H J. Fate of the rectal stump after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Int J Colorectal Dis. 1997; 12 9-13
62 Church J M, Burke C, McGannon E et al.. Predicting polyposis severity by proctoscopy: how reliable is ti?. Dis Colon Rectum. 2001; 44 1249-1254
63 Kartheuser A H, Parc R, Penna C P et al.. Ileal pouch-anal anastomosis as the first choice operation in patients with familial adenomatous polyposis: a ten year experience. Surgery. 1996; 119 615-623
64 Van Duijvendijk P, Vasen H F, Bertario L et al.. Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis. J Gastrointest Surg. 1999; 3 325-330
65 Remzi F H, Church J M, Bast J et al.. Mucosectomy vs staples ileal pouch-anal anastomosis in patients with familial adenomatous polyposis: functional outcome and neoplasia control. Dis Colon Rectum. 2001; 44 1590-1596
66 Fazio V W, Tjandra J J. Transanal mucosectomy. Ileal pouch advancement for anorectal dysplasia or inflammation after restorative proctocolectomy. Dis Colon Rectum. 1994; 37 1008-1011
67 Ziv Y, Fazio V W, Church J M et al.. Stapled ileal pouch-anal anastomosis are safer than hand sewn anastomosis in patients with ulcerative colitis. Am J Surg. 1996; 171 320-323
68 Tuckson W, Lavery I, Fazio V et al.. Manometric and functional comparison of ileal pouch-anal anastomosis with and without anal manipulation. Am J Surg. 1991; 161 90-95
69 Fazio V W, Ziv Y, Church J M et al.. Ileal pouch-anal anastomosis: complications and function in 1005 patients. Ann Surg. 1995; 222 120-127
70 Kollmorgen C F, Nivatvongs S, Dean P A et al.. Long-term cause of death following ileal pouch-anal anastomosis. Dis Colon Rectum. 1996; 39 525-528
71 Setti-Carraro P, Ritchie J K, Wilkinson K H, Nicholls R J, Hawley R R. The first 10 years experience of restorative proctocolectomy for ulcerative colitis. Gut. 1994; 35 1070-1075
72 Keighley M R, Ogunbiyi O A, Korsgen S. Pitfalls and outcome in ileo anal pouch surgery for ulcerative colitis. Neth J Med. 1997; 5 23-27
73 Mikkola K, Lukkonene P, Harvinene H J. Long-term results of restorative proctocolectomy for ulcerative colitis. Int J. Colorectal Dis. 1995; 10 10-14
74 Oresland T, Palmblad S, Ellstrom M et al.. Gynecological and sexual functions related to anatomical changes in the female pelvis after restorative proctocolectomy. Int J Colorectal Dis. 1994; 9 77-81
75 Barnbrick M, Fazio V W, Hull T L et al.. Sexual function following restorative proctocolectomy in women. Dis Colon Rectum. 1996; 39 610-614
76 McLeod R S, Baxter N N. Quality of life of patients with inflammatory bowel disease after surgery. World J Surg. 1998; 22 375-381
77 Olsen K O, Juul S, Bulow S et al.. Female fecundity before and after operation for familial adenomatous polyposis. Br J Surg. 2003; 90 227-231
78 Feinberg S M, Jagelman D G, Sarre R G et al.. Spontaneous resolution of rectal polyps in patients with familial polyposis following abdominal colectomy and ileorectal anastomosis. Dis Colon Rectum. 1988; 31 169-175
79 Nicholls R J, Springall R G, Gallager P. Regression of rectal adenomas after colectomy and ileorectal anastomosis for familial adenomatous polyposis. BMJ. 1988; 296 1707-1708
80 Penna C, Tiret E, Parc R et al.. Operation and abdominal desmoid tumors in familial adenomatous polyposis. Surg Gynecol Obstet. 1993; 177 263-268

C. Neal EllisM.D.

Department of Surgery, University of South Alabama College of Medicine

2451 Fillingim St., MSTN 721, Mobile, AL 36617

eMail: nellis@usouthal.edu