Advertisement

Genetic Mutations in FAP and Conventional or Laparoscopic Surgical Approach

  • Ettore Contessini-Avesani
  • Fiorenzo Botti
  • Alberto Carrara
  • Chiara Rocha
  • Elisa Gilardoni
  • Barbara Oreggia

Keywords

Familial Adenomatous Polyposis Ileal Pouch Restorative Proctocolectomy Ileoanal Anastomosis Ileoanal Pouch 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Frield W, Caspari R, Sengteller M et al (2001) Can APC mutation analysis contribute to therapeutic decision in familial adenomatous polyposis? Experience from 680 FAP families. Gut 45:515–521Google Scholar
  2. 2.
    Contessini-Avesani E, Botti F, Negri C et al (2004) Familial adenomatous polyposis. Surgical treatment: when and how. Tech Coloproctol 8:S309–S314PubMedCrossRefGoogle Scholar
  3. 3.
    Moisio AL, Jarvinen H, Peltomaki P (2002) Genetic and clinic characterization of familial adenomatous polyposis: a population based study. Gut 50:845–850PubMedCrossRefGoogle Scholar
  4. 4.
    Crabtree D, Tomlinson IPM, Hodgson SV et al (2002) Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 51:420–423PubMedCrossRefGoogle Scholar
  5. 5.
    Scott RJ, Meldrum C, Crooks R et al (2001) Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity. Gut 48:508–514PubMedCrossRefGoogle Scholar
  6. 6.
    Ponz de Leon M, Varesco L, Benatti P et al (2001) Phenotype-Genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation. Dis Colon Rectum 44:1597–1604PubMedCrossRefGoogle Scholar
  7. 7.
    Matsumoto T, Lida M, Kobori T et al (2002) Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut 50:402–404PubMedCrossRefGoogle Scholar
  8. 8.
    Hernegger GS, Harvey MD, Moore G, Guillem JG (2002) Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 45:127–136PubMedCrossRefGoogle Scholar
  9. 9.
    Bisgaard ML, Ripa R, Knudsen AL, Bulow SL (2004) Familial adenomatous polyposis patients without an identified APC germline mutation have a severe fenotype. Gut 53:266–270PubMedCrossRefGoogle Scholar
  10. 10.
    Jarvinen HJ (2003) Genetic testing for polyposis: practical and ethical aspects. Gut 52(Suppl II):19–22Google Scholar
  11. 11.
    Church J, Burke C, McGannon E et al (2003) Risk of rectal cancer in patients after colectomy and ileorectal anastomosis for familial adenomatous polyposis: a function of available surgical options. Dis Colon Rectum 46:1175–1181PubMedCrossRefGoogle Scholar
  12. 12.
    Church J, Burke C, McGannon E et al (2001) Predicting polyposis severity by proctoscopy: how reliable is it? Dis Colon Rectum 44:1249–1254PubMedCrossRefGoogle Scholar
  13. 13.
    Bjork J, Akerbrant H, Iselius H et al (2001) Outcome of primary and secondary ileal pouch-anal anastomosis and ileorectal anastomosis in patients with familial adenomatous polyposis. Dis Colon Rectum 44:984–992PubMedCrossRefGoogle Scholar
  14. 14.
    Contessini-Avesani E, Grossano L, Botti F et al (2001) Adenomas in the ileal pouch after restorative proctocolectomy in patients with familial adenomatous polyposis (FAP). Gut 49(Suppl III):A2275Google Scholar
  15. 15.
    Tonelli F, Valanzano R, Monaci I et al (1997) Restorative proctocolectomy or rectum-preserving surgery in patients with familial adenomatous polyposis: results of a prospective study. World J Surg 21:653–659PubMedCrossRefGoogle Scholar
  16. 16.
    Parks AG, Nicholls RJ (1978) Proctocolectomy without ileostomy for ulcerative colitis. BMJ 2:85–88PubMedCrossRefGoogle Scholar
  17. 17.
    Vasen HF, Van Duijvendjk P, Buskens E et al (2001) Decision analysis in the surgical treatment of patients with familial adenomatous polyposis: a Dutch-Scandinavian collaborative study including 659 patients. Gut 49:231–235PubMedCrossRefGoogle Scholar
  18. 18.
    Bertario L, Russo A, Radice P et al (2000) Genotype and phenotype factors in patients with familia adenomatous polyposis. Ann of Surg 231(4):538–543CrossRefGoogle Scholar
  19. 19.
    Kashiwagi, Spigelman AD (2000) Gastroduodenal lesion in familial adenomatous polyposis. Surgery Today 30:675–682PubMedCrossRefGoogle Scholar
  20. 20.
    Bulow S, Bjork J, Christensen IJ et al (2004) Duodenal adenomatosis in familial adenomatous polyposis. Gut 53:381–386PubMedCrossRefGoogle Scholar
  21. 21.
    Groves CG, Saunders BP, Spigelman AD, Phillips RKS (2002) Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10-year prospective study. Gut 50:636–641PubMedCrossRefGoogle Scholar
  22. 22.
    Feldman M, Friedman L, Sleisengen M (eds) (2004) Sleisenger and Fordtran’s gastrointestinal and liver disease. Saunders, Philadelphia, PA, USAGoogle Scholar
  23. 23.
    Chareton B, Caffic J, Landen S et al (1996) Diagnosis and therapy for ampullary tumors: 63 cases. World J Surg 20:707–712PubMedCrossRefGoogle Scholar
  24. 24.
    Trimbath JD, Griffin C, Romans K, Giardiello FM (2003) Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. Gut 52:903–904PubMedCrossRefGoogle Scholar
  25. 25.
    Sturt NJH, Gallagher MC, Bassett P et al (2004) Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut 53:1832–1836PubMedCrossRefGoogle Scholar
  26. 26.
    Heiskanen I, Jarvinen HJ (1996) Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. Colorectal Dis 11:157–162CrossRefGoogle Scholar
  27. 27.
    Clarck SK, Neale KF, Landgrebe JC, Phillips RKS (1999) Desmoid tumors complicating familial adenomatous polyposis. Br J Surg 86:1185–1189CrossRefGoogle Scholar
  28. 28.
    Heuschen UA, Allemeyer EH, Lucas M et al (2001) One-or two-stage procedure for restorative proctocolectomy. Ann Surg 234:788–794PubMedCrossRefGoogle Scholar
  29. 29.
    Sugerman HJ, Sugerman EL, Meador JG et al (2000) Ileal pouch anal anastomosis without ileal diversion. Ann Surg 232:530–541PubMedCrossRefGoogle Scholar
  30. 30.
    Gullberg K, Liljeqvist L (2001) Stapled ileoanal pouches without loop ileostomy: a prospective study in 86 patients. Int J Colorect Dis 16:221–227CrossRefGoogle Scholar
  31. 31.
    Jakimowicz JJ (2000) Will advanced laparoscopic surgery go hand-assisted? Surg Endosc 14:881–882PubMedCrossRefGoogle Scholar
  32. 32.
    Nakajima K, Lee SW, Cocilovo C et al (2004) Laparoscopic total colectomy. Hand-assisted vs. standard technique. Surg Endosc 18:582–586PubMedCrossRefGoogle Scholar
  33. 33.
    Gurland BH, Steven D, Wexner (2002) Laparoscopic surgery for inflammatory bowel disease: results of the past decade. Inflamm Bowel Dis 8(1):46–54PubMedCrossRefGoogle Scholar
  34. 34.
    Seow-Choen F, Eu KW, Leong AFPK, Ho YH (1999) A consecutive series of open compared to laparoscopic restorative proctocolectomy with ileo-pouch anastomosis for familial adenomatous polyposis. Tech Coloproctol 3:83–86CrossRefGoogle Scholar
  35. 35.
    Novitsky YW, Litwin DEM, Callery MP (2004) The net immunologic advantage of laparoscopic surgery. Surg Endosc 18(10):1411–1419PubMedCrossRefGoogle Scholar
  36. 36.
    Targarona EM, Gracia E, Garriga J et al (2002) Prospective randomized trial comparing conventional laparoscopic colectomy with hand-assisted laparoscopic colectomy. Surg Endosc 16:234–239PubMedCrossRefGoogle Scholar
  37. 37.
    Kang JC, Chung MH, Chao PC et al (2004) Hand-assisted laparoscopic colectomy vs. open colectomy: a prospective randomized study. Surg Endosc 18:577–581PubMedCrossRefGoogle Scholar
  38. 38.
    Gullberg K, Lindquist K, Lijeqvist L (1995) Pelvic pouch-anal anastomoses: pros and cons about omission of mucosectomy and loop ileostomy: a study of 60 patients. Ann Chir 49(6):527–533PubMedGoogle Scholar
  39. 39.
    Mularczyk A, Contessini Avesani E et al (1999) Local regulation of postprandial motor responses in ileal pouches. Gut 45(4):575–80PubMedCrossRefGoogle Scholar
  40. 40.
    Bullard KM, Madoff RD, Gemlo BT (2002) Is ileoanal pouch function stable with time? Dis Colon Rectum 45(3):299–304PubMedCrossRefGoogle Scholar
  41. 41.
    Philip TM, Vincent TT (1991) Pelvic pouch procedures. Butterworth, LondonGoogle Scholar
  42. 42.
    Browning SM, Nivatvongs S (1998) Intraoperative abandonment of ileal pouch to anal anastomosis. The Mayo Clinic experience. J Am Coll Surg 186(4):441–445PubMedCrossRefGoogle Scholar
  43. 43.
    Remzi FH, Church JM, Bast J et al (2001) Mucosectomy vs. stapled ileal pouch-anal anastomosis in patients with familial adenomatous polyposis: functional outcome and neoplasia control. Dis Colon Rectum 44:1590–1596PubMedCrossRefGoogle Scholar
  44. 44.
    Ooi BS, Remzi FH, Gramlich T et al (2003) Anal transitional zone cancer after restorative proctocolectomy and ileoanal anastomosis in familial adenomatous polyposis: report of two cases. Dis Colon Rectum 40:1019–1022Google Scholar
  45. 45.
    Church J (2005) Ileoanal pouch neoplasia in familial adenomatous polyposis: an underestimated threat. Dis Colon Rectum 48:1708–1713PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia 2006

Authors and Affiliations

  • Ettore Contessini-Avesani
    • 1
  • Fiorenzo Botti
    • 1
  • Alberto Carrara
    • 1
  • Chiara Rocha
    • 1
  • Elisa Gilardoni
    • 1
  • Barbara Oreggia
    • 1
  1. 1.2nd Unit of General Surgery IRCCS Maggiore HospitalFoundation Mangiagalli and Regina ElenaMilanItaly

Personalised recommendations