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Management of Hereditary Colon Cancer Syndromes

  • Chapter
Colorectal Cancer

Part of the book series: Current Clinical Oncology ((CCO))

Abstract

Hereditary cancers account for approximately 10% of the overall cancer burden. As such, colorectal cancer is no different. The most common hereditary colorectal cancers are hereditary nonpolyposis colorectal cancer (HNPCC) or the Lynch syndrome and familial adenomatous polyposis (FAP). There are, however, other less well-known inherited syndromes for which the colon and rectum are at risk, such as familial juvenile polyposis, Peutz-Jeghers syndrome, and Cowden syndrome.

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References

  1. Nugent KP, Spigelman AD, and Phillips RKS. Life expectancy after colectomy and ileorectal anastomosis for Familial Adenomatous Polyposis. Dis. Colon Rectum, 36 (1993) 1059–1062.

    Article  PubMed  CAS  Google Scholar 

  2. Rodriguez-Bigas MA, Bertario L, and Herrera L. Management of follow-up of patients with familial adenomatous polyposis. In Cancer of the Colon, Rectum, and Anus. Cohen AM, Winawer SJ, Friedman MA, and Gunderson LL (eds.), McGraw-Hill, New York, 1995, pp. 391–397.

    Google Scholar 

  3. Vasen HFA, van der Luijt RB, Slors JF, et al. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet, 348 (1996) 433–435.

    Article  PubMed  CAS  Google Scholar 

  4. Wu JS, Paul P, McGannon EA, and Church JM. APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann. Surg., 227 (1998) 57–62.

    Article  PubMed  CAS  Google Scholar 

  5. Bertario L, Russo A, Radice P, et al. Genotype and phenotype factors as determinants for rectal stump cancer in patients with familial adenomatous polyposis. Ann. Surg., 231 (2000) 538–543.

    Article  PubMed  CAS  Google Scholar 

  6. Brooke BN. Management of ileostomy including its complications. Lancet, 2 (1952) 102–104.

    Article  PubMed  CAS  Google Scholar 

  7. Kock NG. Intra-abdominal “reservoir” in patients with permanent ileostomy: Preliminary observations on a procedure resulting in fecal “continence” in five ileostomy patients. Arch. Surg., 99 (1969) 223–231.

    Article  PubMed  CAS  Google Scholar 

  8. Mayo CW and Wakefield EG. Disseminated polyposis of the colon: new surgical treatment in selected cases. J. Am. Med. Assoc., 107 (1936) 324–348.

    Google Scholar 

  9. Jagelman DG. Familial polyposis coli. Surg. Clin. North Am., 63 (1983) 117–128.

    PubMed  CAS  Google Scholar 

  10. Sarre RG, Jagelman DG, Beck GJ, et al. Colectomy with ileorectal anastomosis for familial adenomatous polyposis: the risk of rectal cancer. Surgery, 101 (1983) 20–26.

    Google Scholar 

  11. De Cosse JJ, Bulow S, Neale K, et al. Leeds Castle Polyposis Group. Rectal cancer risk in patients treated for familial adenomatous polyposis. Br. J. Surg., 79 (1992) 1372–1375.

    Article  PubMed  Google Scholar 

  12. Nugent KP and Phillips RKS. Rectal cancer risk in older patients with familial adenomatous polyposis and ileorectal anastomosis: a cause for concern. Br. J. Surg., 79 (1992) 1204–1206.

    Article  PubMed  CAS  Google Scholar 

  13. Iwama T, Mishima Y, and Utsunomiya J. The impact of familial adenomatous polyposis on the tumorigenesis and mortality at several organs: its rational treatment. Ann. Surg., 217 (1993) 101.

    Article  PubMed  CAS  Google Scholar 

  14. Heiskanen I and Järvinen HJ. Fate of the rectal stump after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Int. J. Colorect. Dis., 12 (1997) 9–13.

    Article  CAS  Google Scholar 

  15. Bess MA, Adson MA, Elveback LR, and Moertel CG. Rectal cancer following colectomy for polyposis. Arch. Surg., 115 (1980) 460–467.

    Article  PubMed  CAS  Google Scholar 

  16. Soravia C, Klein L, Berk T, O’Connor BI, Cohen Z, and Mcleod RS. Comparison of ileal pouch anastomosis and ileorectal anastomosis in patients with familial adenomatous polyposis. Dis. Colon Rectum, 42 (1999) 1028–1034.

    Article  PubMed  CAS  Google Scholar 

  17. Iwama T and Mishima Y. Factors affecting the risk of rectal cancer following rectum-preserving surgery in patients with polyposis coli. Dis. Colon Rectum, 37 (1994) 1024–1026.

    Article  PubMed  CAS  Google Scholar 

  18. Setti-Carraro P and Nicholls RJ. Choice of prophylactic surgery for the large bowel component of familial adenomatous polyposis. Br. J. Surg., 83 (1996) 885–892.

    Article  PubMed  CAS  Google Scholar 

  19. Iwama T and Nishima Y. Factors affecting the risk of rectal cancer following rectum-preserving surgery in patients with familial adenomatous polyposis. Dis. Colon Rectum, 37 (1994) 1024–1026.

    Article  PubMed  CAS  Google Scholar 

  20. Feinberg SM, Jagelman DG, Sarre RG, et al. Spontaneous resolution of rectal polyps in patients with familial adenomatous polyposis following abdominal colectomy and ileorectal anastomosis. Dis. Colon Rectum, 31 (1988) 169–175.

    Article  PubMed  CAS  Google Scholar 

  21. Cats A, Kleibeuker JH, Kuipers F, et al. Changes in rectal epithelial cell proliferation and intestinal bile acids after subtotal colectomy in familial adenomatous polyposis. Cancer Res., 52 (1992) 3552–3557.

    PubMed  CAS  Google Scholar 

  22. Thompson JPS Familial adenomatous polyposis: the large bowel. Ann. R. Coll. Surgeons England, 72 (1990) 177–190.

    Google Scholar 

  23. van Duijvendjik P, Slors JF, Taat CW, Oosterveld P, and Vasen HFA. Functional outcome after colectomy and ileorectal anastomosis compared with proctocolectomy and ileal pouch-anal anastomosis in familial adenomatous polyposis. Ann. Surg., 230 (1999) 648–654.

    Article  Google Scholar 

  24. Madden MV, Neale KF, Nicholls RJ, et al. Comparison of morbidity and function after colectomy with ileorectal anastomosis or restorative proctocolectomy for familial adenomatous polyposis. Br. J. Surg., 78 (1991) 789–792.

    Article  PubMed  CAS  Google Scholar 

  25. Ambroze WL Jr, Dozois RR, Pemberton JH, Beart RW Jr, and Ilstrup DM. Familial adenomatous polyposis: results following ileal pouch-anal anastomosis and ileorectostomy. Dis. Colon Rectum, 35 (1992) 12–15.

    Article  PubMed  Google Scholar 

  26. Penna C, Kartheuser A, Parc R, et al. Secondary proctectomy and ileal pouch-anal anastomosis after ileorectal anastomosis for familial adenomatous polyposis. Br. J. Surg., 80 (1993) 1621–1623.

    Article  PubMed  CAS  Google Scholar 

  27. Fazio VW, Tiandra JJ, and Lavery IC. Techniques of pouch construction. In Restorative Proctocolectomy. Nicholls J, Bartolo D, and Mortensen N (eds.), Blackwell Scientific, Oxford, 1993, pp. 13–33.

    Google Scholar 

  28. Palkar VM, deSouza LJ, Jagannath P, and Naresh KN. Adenocarcinoma arising in “J” pouch after total proctocolectomy for familial polyposis coli. Indian J. Cancer, 34 (1997) 16–19.

    PubMed  CAS  Google Scholar 

  29. Hoehner JC and Metcalf AM. Development of invasive adenocarcinoma following colectomy with ileoanal anastomosis for familial polyposis coli. Report of a case. Dis. Colon Rectum, 37 (1994) 824–828.

    Article  PubMed  CAS  Google Scholar 

  30. von Herbay A, Stern J, and Herfarth C. Pouch-anal cancer after restorative proctocolectomy for familial adenomatous polyposis. Am. J. Surg. Pathol., 20 (1996) 995–999.

    Article  Google Scholar 

  31. Wu JS, McGannon EA, and Church JM. Incidence of neoplastic polyps in the ileal pouch of patients with familial adenomatous polyposis after restorative proctocolectomy. Dis. Colon Rectum, 41 (1998) 552–556.

    Article  PubMed  CAS  Google Scholar 

  32. van Duijvendijk P, Vasen HF, 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., 3 (1999) 325–330.

    Article  PubMed  Google Scholar 

  33. Parks AG and Nicholls RJ. Proctocolectomy without ileostomy for ulcerative colitis. Br. Med. J., 2 (1978) 85–88.

    Article  PubMed  CAS  Google Scholar 

  34. Utsunomiya J, Iwama T, Imajo M, et al. Total colectomy, mucosal proctectomy and ileoanal anastomosis. Dis. Colon Rectum, 23 (1980) 459–466.

    Article  PubMed  CAS  Google Scholar 

  35. Harms BA, Hamilton JW, Yamamoto DT, and Starling JR. Quadruple-loop (W) ileal pouch reconstruction after proctocolectomy: analysis and functional results. Surgery, 102 (1987) 561–567.

    PubMed  CAS  Google Scholar 

  36. Smith LE, Friend W, and Medwell S. The superior mesenteric artery: the critical factor in pouch-pull through procedure. Dis. Colon Rectum, 27 (1984) 741–744.

    Article  PubMed  CAS  Google Scholar 

  37. Nyam DC, Brillant PT, Dozois RR, Kelly KA, Pemberton JH, and Wolff BG. Ileal pouch-anal anastomosis for familial adenomatous polyposis: early and late results. Ann. Surg., 226 (1997) 514–539.

    Article  PubMed  CAS  Google Scholar 

  38. Kartheuser AH, Parc R, Penna CP, et al. Ileal-pouch-anal anastomosis as the first choice operation in familial adenomatous polyposis: a ten-year experience. Surgery, 119 (1996) 615–623.

    Article  PubMed  CAS  Google Scholar 

  39. Pemberton JH. Complications, management, failure and revisions. In Restorative Proctocolectomy. Nicholls J, Bartolo D, and Mortensen N (eds.), Blackwell Scientific, Oxford, 1993, pp. 34–52.

    Google Scholar 

  40. Becker JM, Dayton MT, Fazio VW, et al. Prevention of postoperative abdominal adhesions by a sodium hyalouronate-bioresorbable membrane: a prospective, randomized, double-blind multicenter study. J. Am. Coll. Surg., 183 (1996) 297–306.

    PubMed  CAS  Google Scholar 

  41. Dozois RR, Berk T, Bulow S, et al. Surgical aspects of familial adenomatous polyposis. Int. J. Colorect. Dis., 3 (1988) 1–16.

    Article  Google Scholar 

  42. Parc Y, Moslein G, Dozois RR, Pemberton JH, Wolff BG, and King JE. Familial adenomatous polyposis. Results after ileal pouch-anal anastomosis in teenagers. Dis. Colon Rectum, 43 (2000) 893–902.

    Article  PubMed  CAS  Google Scholar 

  43. Shepherd NA, Jass JR, Duval I, Moskowitz RL, Nicholls RJ, and Morson BC. Restorative proctocolectomy with ileal reservoir: pathological and histochemical study of mucosal biopsy specimens. J. Clin. Pathol., 40 (1987) 601–607.

    Article  PubMed  CAS  Google Scholar 

  44. Aarnio M, Mecklin JP, Aaltonen L, Nystrom Lahti M, and Järvinen HJ. Life-time risk of different cancers in hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. Int. J. Cancer, 64 (1995) 430–433.

    Article  PubMed  CAS  Google Scholar 

  45. Fitzgibbons R, Lynch HT, Stanislav G, et al. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann. Surg., 206 (1987) 289–295.

    Article  PubMed  Google Scholar 

  46. Box JC, Rodriguez-Bigas MA, Weber TK, and Petrelli NJ. Clinical implications of multiple colorectal carcinoma in hereditary nonpolyposis colorectal carcinoma. Dis. Colon Rectum, 42 (1999) 717–721.

    Article  PubMed  CAS  Google Scholar 

  47. Rodriguez-Bigas MA, Vasen HFA, Mecklin JP, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Ann. Surg., 225 (1997) 202–207.

    Article  PubMed  CAS  Google Scholar 

  48. Baba S. Hereditary nonpolyposis colorectal cancer, an update. Dis. Colon Rectum, 40 (Suppl.) (1997) S86 - S95.

    Article  PubMed  CAS  Google Scholar 

  49. Moslein G, Nelson H, Thibodeau S, and Dozois RR. Rectal Carcinoma in HNPCC. Lagenbecks Arch. Chirurgie, 115 (1998) 1467–1469 (in German).

    CAS  Google Scholar 

  50. Watson P and Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer, 71 (1993) 677–685.

    Article  PubMed  CAS  Google Scholar 

  51. Watson P, Vasen HFA, Mecklin JP, Järvinen H, and Lynch HT. The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer. Am. J. Med., 96 (1994) 561–620.

    Article  Google Scholar 

  52. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum. Mol. Genet., 6 (1997) 105–110.

    Article  PubMed  CAS  Google Scholar 

  53. Lee JS, Petrelli NJ, and Rodriguez-Bigas MA. Rectal cancer in hereditary nonpolyposis colorectal cancer. Am. J. Surg., 181 (2001) 207–210.

    Article  PubMed  CAS  Google Scholar 

  54. Burke W, Petersen GM, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer: hereditary nonpolyposis colorectal cancer. JAMA, 277 (1997) 915–919.

    Article  PubMed  CAS  Google Scholar 

  55. Jass JR, Stewart SM, Stewart J, and Lane MR. Hereditary nonpolyposis colorectal cancer: morphologies, genes, and mutations. Mutat. Res., 290 (1994) 125–133.

    Google Scholar 

  56. Jass JR, Smyrk TC, Stewart SM, Lane MR, Lanspa SJ, and Lynch HT. Pathology of hereditary nonpolyposis colorectal cancer. Anticancer Res., 14 (1994) 1631–1635.

    PubMed  CAS  Google Scholar 

  57. lino H, Simms L, Young J, et al. DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary nonpolyposis colorectal cancer. Gut, 47 (2000) 37–42.

    Article  Google Scholar 

  58. Lynch HT. Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers? Dis. Colon Rectum, 39 (1996) 109–10.

    Article  PubMed  CAS  Google Scholar 

  59. Rodriguez-Bigas MA. Prophylactic colectomy in gene carriers in hereditary nonpolyposis colorectal cancer; has the time come? Cancer, 78 (1996) 199–201.

    Article  PubMed  CAS  Google Scholar 

  60. Lynch HT, Albano WA, Ruma TA, Schimtz GD, Costello KA, and Lynch JF. Surveillance/management of an obligate gene carrier: the cancer family syndrome. Gastroenterology, 84 (1983) 404–408.

    PubMed  CAS  Google Scholar 

  61. Vasen HFA, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology, 110 (1996) 1020–1027.

    Article  PubMed  CAS  Google Scholar 

  62. Syngal S, Weeks JC, Schrag D, Garber JE, and Kuntz KM. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann. Intern. Med., 15 (1998) 787–796.

    Article  Google Scholar 

  63. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 118 (2000) 829–834.

    Article  PubMed  Google Scholar 

  64. Jass JR, Williams CB, Bussey HJR, and Morson BC. Juvenile Polyposis-a precancerous condition. Histopathology, 13 (1988) 619–630.

    Article  PubMed  CAS  Google Scholar 

  65. Giardiello FM, Hamilton SR, Kern SE, et al. Colorectal neoplasia in juvenile polyposis or juvenile polyps. Arch. Child. Dis., 66 (1991) 971–975.

    Article  CAS  Google Scholar 

  66. Hofting I, Pott G, and Stolte M. Das syndrom der juvenillen polyposis. Leber. Magen. Darm., 23 (1993) 107–112.

    PubMed  CAS  Google Scholar 

  67. Rodriguez-Bigas MA, Penetrante RB, Herrera L. and Petrelli NJ. Intraoperative small bowel enteroscopy in familial adenomatous and familial juvenile polyposis. Gastrointest. Endosc., 42 (1995) 560–564.

    Article  PubMed  CAS  Google Scholar 

  68. Coburn MC, Pricolo VE, DeLuca FG, and Bland KI. Malignant potential in juvenile polyposis syndromes. Ann. Surg. Oncol., 2 (1995) 386–391.

    Article  PubMed  CAS  Google Scholar 

  69. Murday V and Slack J. Inherited disorders associated with colorectal cancer. Cancer Surv., 8 (1989) 139–157.

    PubMed  CAS  Google Scholar 

  70. Desai DC, Neale KF, Talbot IC, Hodgson SV, and Phillips RKS. Juvenile polyposis. Br. J. Surg., 8 (1995) 14–17.

    Article  Google Scholar 

  71. Sachatello CR, Hahn IS, and Carrington CB. Juvenile gastrointestinal polyposis in a female infant: report of a case and review of the literature of a recently recognized syndrome. Surgery, 75 (1974) 107–114.

    PubMed  CAS  Google Scholar 

  72. Järvinen H and Franssila KO. Familial juvenile polyposis coli; increased risk of colorectal cancer. Gut, 25 (1984) 792–800.

    Article  PubMed  Google Scholar 

  73. Sturniolo GC, Montino MC, Dall’Igna F, et al. Familial juvenile polyposis coli: results of endoscopic treatment and surveillance in two sister. Gastrointest, Endoscopy, 39 (1993) 561–565.

    CAS  Google Scholar 

  74. Jeghers H, Mckusick VA, and Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips, and digits: a syndrome of diagnostic significance. N Engl. J. Med., 241 (1949) 992–1005.

    Google Scholar 

  75. Giardiello FM, Welsh MD, Hamilton SR, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N. Engl. J. Med., 316 (1987) 1511–1514.

    Article  PubMed  CAS  Google Scholar 

  76. Spigelman AD, Murday V, and Phillips RKS. Cancer and the Peutz-Jeghers syndrome. Gut, 30 (1989) 1588–1590.

    Article  PubMed  CAS  Google Scholar 

  77. Hizawa K, Iida M, Matsumoto T, et al. Cancer in Peutz-Jeghers syndrome. Cancer, 72 (1993) 2777–2781.

    Article  PubMed  CAS  Google Scholar 

  78. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in the Peutz-Jeghers syndrome. Ann. Intern. Med., 128 (1998) 896–869.

    Article  PubMed  CAS  Google Scholar 

  79. Foley TR, McGarrity TJ, and Abt AB. Peutz-Jeghers syndrome: a clinicopathologic survey of the “Harrisburg family” with a 49-year follow-up. Gastroenterology, 95 (1988) 1535–1540.

    PubMed  CAS  Google Scholar 

  80. Spigelman AD, Thompson JPS, and Phillips RKS. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of preoperative small bowel endoscopy. Br. J. Surg., 77 (1990) 301–302.

    Article  PubMed  CAS  Google Scholar 

  81. Pennazio M and Rossini FP. Small bowel polyps in Peutz-Jeghers syndrome: management by combined push enteroscopy and intraoperative enteroscopy. Gastrointest. Endoscopy, 51 (2000) 304–308.

    Article  CAS  Google Scholar 

  82. Spigelman AD, Arese P, and Phillips RKS. Polyposis: the Peutz-Jeghers syndrome. Br. J. Surg., 82 (1995) 1311–1314.

    Article  PubMed  CAS  Google Scholar 

  83. Guillem JG, Smith AJ, Puig-La Calle J, and Ruo L. Gastrointestinal polyposis syndromes. Curr. Probl. Surg., 36 (1999) 228–323.

    Article  Google Scholar 

  84. Eng C. Cowden syndrome. J. Genet. Counsel., 6 (1997) 181–191.

    Article  Google Scholar 

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Authors
  1. Miguel A. Rodriguez-Bigas
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  2. Nicholas J. Petrelli
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Editors and Affiliations

  1. Gastrointestinal Oncology Division, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA

    Leonard B. Saltz MD

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Rodriguez-Bigas, M.A., Petrelli, N.J. (2002). Management of Hereditary Colon Cancer Syndromes. In: Saltz, L.B. (eds) Colorectal Cancer. Current Clinical Oncology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-160-2_6

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  • DOI: https://doi.org/10.1007/978-1-59259-160-2_6

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