FAP History Through a Patient’s Story

  • Gian Gaetano Delaini
  • Gianluca Colucci
  • Filippo Nifosì


Familial Adenomatous Polyposis Adenomatous Polyposis Coli Lynch Syndrome Desmoid Tumour Supernumerary Tooth 
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.


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  1. 1.
    Menzelio D (1721) De excrescentis verrucoso cristosis copiose in intestinis crassis dysenteriam passi observatis. Acta Medicorum Berolinensium IX:68–71Google Scholar
  2. 2.
    Cripps WH (1882) Two cases of disseminated polypus of the lower bowel occurring in one family. Trans Path Soc London 33:165–168Google Scholar
  3. 3.
    Smith T (1887) Three cases of multiple polypi of the lower bowel occurring in one family. St. Bartholomew’s Hosp Rep 23:225–229Google Scholar
  4. 4.
    Handford H (1890) Disseminated polypi of the large intestine becoming malignant; strictures (malignant adenoma) of the rectum and of splenic flexure of the colon; secondary growths in the liver. Trans Path Soc London 133–137Google Scholar
  5. 5.
    Kita K, Wittmann T, Nathke IS, Waterman-Storer CM (2006) APC on microtubule plus ends in cell extensions can promote microtubule net growth with or without EB1. Mol Biol Cell [Epub ahead of print]Google Scholar
  6. 6.
    Gayther SA, Wells D, Sen-Gupta SB et al (1994) Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet 3:53–56PubMedCrossRefGoogle Scholar
  7. 7.
    Herrera L, Kakati S, Gibas L et al (1986) Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 25:473–476PubMedCrossRefGoogle Scholar
  8. 8.
    Laurent-Puig P, Beroud C, Soussi T (1998) APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 26:269–270PubMedCrossRefGoogle Scholar
  9. 9.
    Fearnhead NS, Britton MP, Bodmer WF (2001) The ABC of APC. Hum Mol Genet 10:721–733PubMedCrossRefGoogle Scholar
  10. 10.
    Bussey HJR (1975) Familial polyposis coli. John Hopkins University Press, BaltimoreGoogle Scholar
  11. 11.
    Soravia C, Berk T, Madlensky L et al (1998) Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 62:1290–1301PubMedCrossRefGoogle Scholar
  12. 12.
    Bulow S (1987) Familial polyposis coli. Dan Med Bull 34:1–15PubMedGoogle Scholar
  13. 13.
    Bulow S, Bjork J, Christensen IJ et al (2004) Duodenal adenomatosis in familial adenomatous polyposis. Gut 53:381–386PubMedCrossRefGoogle Scholar
  14. 14.
    Church JM, McGannon E, Hull-Boiner S et al (1992) Gastroduodenal polyps in patients with familial adenomatous polyposis. Dis Colon Rectum 35:1170–1173PubMedCrossRefGoogle Scholar
  15. 15.
    Bjork J, Akerbrant H, Iselius L et al (2001) Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 121:1127–1135PubMedCrossRefGoogle Scholar
  16. 16.
    Groves CJ, Saunders BP, Spigelman AD, Phillips RK (2002) Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 50:636–641PubMedCrossRefGoogle Scholar
  17. 17.
    Spigelman AD, Williams CB, Talbot IC et al (1989) Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 2:783–785PubMedCrossRefGoogle Scholar
  18. 18.
    Krausz MM, Duek SD (2005) Restorative proctocolectomy with ileal pouch-anal anastomosis for ulcerative colitis and familial adenomatous polyposis: twenty years follow-up in 174 patients. Isr Med Assoc J 7:23–27PubMedGoogle Scholar
  19. 19.
    Penna C, Tiret E, Kartheuser A et al (1993) Function of ileal J pouch-anal anastomosis in patients with familial adenomatous polyposis. Br J Surg 80:765–767PubMedCrossRefGoogle Scholar
  20. 20.
    Ziv Y, Church JM, Oakley JR et al (1996) Results after restorative proctocolectomy and ileal pouch-anal anastomosis in patients with familial adenomatous polyposis and coexisting colorectal cancer. Br J Surg 83:1578–1580PubMedCrossRefGoogle Scholar
  21. 21.
    Soravia C, Klein L, Berk T et al (1999) Comparison of ileal pouch-anal anastomosis and ileorectal anastomosis in patients with familial adenomatous polyposis. Dis Colon Rectum 42:1028–1033PubMedCrossRefGoogle Scholar
  22. 22.
    Van DP, Slors JF, Taat CW et al (1999) Functional outcome after colectomy and ileorectal anastomosis compared with proctocolectomy and ileal pouch-anal anastomosis in familial adenomatous polyposis. Ann Surg 230:648–654CrossRefGoogle Scholar
  23. 23.
    Gardner EJ (1962) Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cyst. Am J Hum Genet 14:390Google Scholar
  24. 24.
    Turcot J, Despres J, St. Pierre F (1959) Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 2:468Google Scholar
  25. 25.
    Clark SK, Phillips RK (1996) Desmoids in familial adenomatous polyposis. Br J Surg 83:1494–1504PubMedCrossRefGoogle Scholar
  26. 26.
    Knudsen AL, Bulow S (2000) [Desmoid tumor in familial adenomatous polyposis] Ugeskr Laeger. 162:5628–5631PubMedGoogle Scholar
  27. 27.
    Gonzalez CF, Herranz AF, Duran MR et al (1994) [Obstructive uropathy in Gardner syndrome: a new case and an alternative therapeutic option]. Actas Urol Esp 18:128–132Google Scholar
  28. 28.
    Campos FG, Habr-Gama A, Kiss DR et al (2003) [Extracolonic manifestations of familial adenomatous polyposis: incidence and impact on the disease outcome] Arq Gastroenterol 40:92–98PubMedCrossRefGoogle Scholar
  29. 29.
    Shields C J, Winter D C, Kirwan WO, Redmond HP (2001) Desmoid tumours. Eur J Surg Oncol 2:122–135Google Scholar
  30. 30.
    Klemmer S, Pascoe L, DeCosse J (1987) Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet 28:385–392PubMedCrossRefGoogle Scholar
  31. 31.
    Bessler W, Egloff B, Sulser H (1984) Case report 253. Gardner syndrome with aggressive fibromatosis. Skeletal Radiol 11:56–59PubMedCrossRefGoogle Scholar
  32. 32.
    Araki Y, Isomoto H, Shirouzu K et al (1991) Occurrence of desmoid tumors following surgery for familial adenomatosis coli — report of two cases. Kurume Med J 38:9–14PubMedGoogle Scholar
  33. 33.
    Clark SK, Smith TG, Katz DE et al (1998) Identification and progression of a desmoid precursor lesion in patients with familial adenomatous polyposis. Br J Surg 85:970–973PubMedCrossRefGoogle Scholar
  34. 34.
    Hartley JE, Church JM, Gupta S et al (2004) Significance of incidental desmoids identified during surgery for familial adenomatous polyposis. Dis Colon Rectum 47:334–338PubMedCrossRefGoogle Scholar
  35. 35.
    Church J, Berk T, Boman BM et al (2005) Staging intra-abdominal desmoid tumors in familial adenomatous polyposis: a search for a uniform approach to a troubling disease. Dis Colon Rectum 48:1528–1534PubMedCrossRefGoogle Scholar
  36. 36.
    Jones IT, Jagelman DG, Fazio VW et al (1986) Desmoid tumor in patients with familial polyposis coli. Ann Surg 204:94–97PubMedCrossRefGoogle Scholar
  37. 37.
    Tsukada K, Church JM, Jagelman DG et al (1991) Systemic cytotoxic chemotherapy and radiation therapy for desmoid in familial adenomatous polyposis. Dis Colon Rectum 34:1090–1092PubMedCrossRefGoogle Scholar
  38. 38.
    Poritz LS, Blackstein M, Berk T et al (2001) Extended follow-up of patients treated with cytotoxic chemotherapy for intra-abdominal desmoid tumors Dis Colon Rectum 44:1268–1273PubMedCrossRefGoogle Scholar
  39. 39.
    Patel SR, Benjamin RS (2006) Desmoid tumors respond to chemotherapy: defying the dogma in oncology. J Clin Oncol 24:11–12PubMedCrossRefGoogle Scholar
  40. 40.
    Lynch HT, Fitzgibbons R Jr, Chong S et al (1994) Use of doxorubicin and dacarbazine for the management of unresectable intra-abdominal desmoid tumors in Gardner’s syndrome. Dis Colon Rectum 37:260–267PubMedCrossRefGoogle Scholar
  41. 41.
    Tsukada K, Church JM, Jagelman DG et al (1992) Noncytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis. Dis Colon Rectum 35:29–33PubMedCrossRefGoogle Scholar
  42. 42.
    Kulaylat MN, Karakousis CP, Keaney CM et al (1999) Desmoid tumour: a pleomorphic lesion. Eur J Surg Oncol 25:487–497PubMedCrossRefGoogle Scholar
  43. 43.
    Tonelli F, Ficari F, Valanzano R, Brandi ML (2003) Treatment of desmoids and mesenteric fibromatosis in familial adenomatous polyposis with raloxifene. Tumori 89:391–396PubMedGoogle Scholar
  44. 44.
    Bauernhofer T, Stoger H, Schmid M et al (1996) Sequential treatment of recurrent mesenteric desmoid tumor Cancer 77:1061–1065PubMedCrossRefGoogle Scholar
  45. 45.
    Mace J, Sybil B, Sondak V et al (2002) Response of extraabdominal desmoid tumors to therapy with imatinib mesylate. Cancer 95:2373–2379PubMedCrossRefGoogle Scholar
  46. 46.
    Berk T, Cohen Z, McLeod RS, Stern HS (1992) Management of mesenteric desmoid tumours in familial adenomatous polyposis. Can J Surg 35:393–395PubMedGoogle Scholar
  47. 47.
    Clark SK, Neale KF, Landgrebe JC, Phillips RK (1999) Desmoid tumours complicating familial adenomatous polyposis. Br J Surg 86:1185–1189PubMedCrossRefGoogle Scholar
  48. 48.
    Kadmon M, Moslein G, Buhr HJ, Herfarth C (1995) [Desmoid tumors in patients with familial adenomatous polyposis (FAP) Clinical and therapeutic observations from the Heidelberg polyposis register]. Chirurg 66:997–1005PubMedGoogle Scholar
  49. 49.
    Chatzipetrou MA, Tzakis AG, Pinna AD et al (2001) Intestinal transplantation for the treatment of desmoid tumors associated with familial adenomatous polyposis. Surgery 129:277–281PubMedCrossRefGoogle Scholar
  50. 50.
    Gajate ML, Elias ME, Martinez PA et al (2004) [Intestinal transplantation in adults: present situation and future prospects]. Rev Esp Anestesiol Reanim 51:537–548Google Scholar
  51. 51.
    Lattimer JK, Birkhoff J, Olsson CA (1987) The treatment of ureteral obstruction in Gardner’s syndrome: renal autotransplantation. J Urol 138:133–135PubMedGoogle Scholar
  52. 52.
    Soon JL, Lau WK, Seow-Choen F, Cheng CW (2005) Unresectable desmoid tumours causing obstructive uropathy in familial adenomatous polyposis. Asian J Surg 28:233–237PubMedCrossRefGoogle Scholar
  53. 53.
    Jovine E, Masetti M, Cautero N et al (2002) Modified multivisceral transplantation without a liver graft for Gardner/Desmoid syndrome and chronic intestinal pseudo-obstruction. Transplant Proc 34:911–912PubMedCrossRefGoogle Scholar
  54. 54.
    Misiakos EP, Pinna A, Kato T et al (1999) Recurrence of desmoid tumor in a multivisceral transplant patient with Gardner’s syndrome. Transplantation 67:1197–1199PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia 2006

Authors and Affiliations

  • Gian Gaetano Delaini
    • 1
  • Gianluca Colucci
    • 1
  • Filippo Nifosì
    • 1
  1. 1.Department of General Surgery and GastroenterologyUniversity of VeronaVeronaItaly

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