Display options
Cite
Murgic J, Kirac I, Soldic Z, et al. Familial adenomatous polyposis in three generations of a single family: a case study. Case Rep Oncol. 2014;7(2):349-56doi: 10.1159/000363221.
Murgic, J., Kirac, I., Soldic, Z., Tomas, D., Zovak, M., Bolanca, A., Plawski, A., Banasiewicz, Y., & Kusic, Z. (2014). Familial adenomatous polyposis in three generations of a single family: a case study. Case reports in oncology, 7(2), 349-56. https://doi.org/10.1159/000363221
Murgic, Jure, et al. "Familial adenomatous polyposis in three generations of a single family: a case study." Case reports in oncology vol. 7,2 (2014): 349-56. doi: https://doi.org/10.1159/000363221
Murgic J, Kirac I, Soldic Z, Tomas D, Zovak M, Bolanca A, Plawski A, Banasiewicz Y, Kusic Z. Familial adenomatous polyposis in three generations of a single family: a case study. Case Rep Oncol. 2014 May 28;7(2):349-56. doi: 10.1159/000363221. eCollection 2014 May. PMID: 24987355; PMCID: PMC4067724.
Copy Download .nbib Format: NLM
Share it on

Case Rep Oncol. 2014 May 28;7(2):349-56. doi: 10.1159/000363221. eCollection 2014 May.

Familial adenomatous polyposis in three generations of a single family: a case study.

Case reports in oncology

Jure Murgic, Iva Kirac, Zeljko Soldic, Davor Tomas, Mario Zovak, Ante Bolanca, Andrzej Plawski, Y Banasiewicz, Zvonko Kusic

Affiliations

  1. Department of Oncology and Nuclear Medicine, University Hospital for Tumors, Croatia, Poland.
  2. Department of Surgical Oncology, University Hospital for Tumors, Croatia, Poland.
  3. Ljudevit Jurak Department of Pathology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia, Poland.
  4. Department of Surgery, Sestre milosrdnice University Hospital Center, Zagreb, Croatia, Poland.
  5. Institute of Human Genetics, Polish Academy of Sciences, Pozna? University of Medical Sciences, Pozna?, Poland.
  6. Department of General Surgery, Pozna? University of Medical Sciences, Pozna?, Poland.

PMID: 24987355 PMCID: PMC4067724 DOI: 10.1159/000363221

Abstract

BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited syndrome characterized by the development of numerous polyps in the colon and rectum. If left untreated, the affected patients inevitably develop colon cancer by the age of 40 years. A resection of the colon (colectomy) or of the colon and rectum (proctocolectomy) is needed to minimize the risk of cancer.

CASE PRESENTATION: We report a case of FAP through three generations of a single family, in which the grandmother and granddaughter underwent total colectomy with ileoanal anastomosis and did not develop colon cancer, while the son underwent subtotal colectomy with ileorectal anastomosis and developed recurrent rectal cancer. Data regarding timely surgery, surveillance, and chemoprevention are discussed.

CONCLUSION: The FAP phenotype determines the type of treatment. In severe polyposis, proctocolectomy with ileoanal anastomosis seems to be the optimal method for minimizing the risk of cancer development. This case report advocates complete rectal removal, especially in cases of poor patient compliance with colonoscopic surveillance.

Keywords: 2805C>G substitution; Colectomy; Familial adenomatous polyposis; Rectal cancer

References

  1. Br J Surg. 1994 Dec;81(12):1722-33 - PubMed
  2. Br J Surg. 1996 Jun;83(6):769-70 - PubMed
  3. Gastroenterology. 2000 Dec;119(6):1454-60 - PubMed
  4. Gastroenterology. 2002 Mar;122(3):641-5 - PubMed
  5. Br J Surg. 1996 Nov;83(11):1578-80 - PubMed
  6. N Engl J Med. 2000 Jun 29;342(26):1946-52 - PubMed
  7. Orphanet J Rare Dis. 2009 Oct 12;4:22 - PubMed
  8. Endoscopy. 2008 May;40(5):437-42 - PubMed
  9. N Engl J Med. 1993 May 6;328(18):1313-6 - PubMed
  10. Clin Colon Rectal Surg. 2008 Nov;21(4):263-72 - PubMed
  11. Gastroenterology. 1991 Jun;100(6):1658-64 - PubMed
  12. Dis Colon Rectum. 2003 Oct;46(10):1418-23; discussion 1422-3 - PubMed
  13. Hum Mutat. 1994;3(2):121-5 - PubMed
  14. Br J Surg. 2006 Apr;93(4):407-17 - PubMed
  15. Ann Surg. 2001 Mar;233(3):360-4 - PubMed
  16. Gastroenterology. 2003 Feb;124(2):544-60 - PubMed

Publication Types