Familial adenomatous polyposis pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2], Mohamad Alkateb, MBBCh [3]


The development of familial adenomatous polyposis is the result of multiple genetic mutationsGenes involved in the pathogenesis of familial adenomatous polyposis include APC and MUTYH genes. Many patients with familial adenomatous polyposis have a positive family history of colorectal cancer or polyps. However, some of the patients with familial adenomatous polyposis may have no previous family history. Loss of APC gene function is believed to be the first event in pathogenesis of colon cancer leading to formation of an adenoma. Three hundred mutations of APC gene have been discovered for familial adenomatous polyposis. These mutations have premature stop codons and lead to a truncated protein. Familial adenomatous polyposis has autosomal dominant inheritance pattern if it results from mutations in the APC gene and autosomal recessive inheritance pattern if it results from mutations in the MUTYH gene. APC gene mutation is found in 6% of Ashkenazi Jews. Familial adenomatous polyposis is associated with different malignancies including stomach cancer, periampullary cancer, pancreatic cancer, hepatoblastoma, bile duct cancer, papillary thyroid cancer, and medulloblastoma. Duodenal adenoma, adrenal masses, desmoid tumor, osteomas, congenital hypertrophy of the retinal pigment epithelium, epidermoid cysts, and fibromas are associated with familial adenomatous polyposis. On gross pathology, numerous polyps are characteristic finding of familial adenomatous polyposis.



Molecular pathogenesis of colon cancer[4]
Molecular pathogenesis of colitis-associated colon cancer[4]


Associated Conditions

Familial adenomatous polyposis is associated with other intestinal and extra intestinal conditions such as:[9][10][1]

Gastrointestinal conditions

Extra intestinal conditions

CHRPE - congenital hypertrophy of the retinal pigment epithelium By see above - E. Half, D. Bercovich, P. Rozen. Familial adenomatous polyposis „Orphanet J Rare Dis”. 4, s. 22 (Oct 2009). doi:10.1186/1750-1172-4-22. PMID 19822006., CC BY-SA 2.0 Via Wikimedia Commons[11]

Gross Pathology

On gross pathology, numerous polyps are characteristic findings of familial adenomatous polyposis.

Large intestine showing numerous polyps. By Netha Hussain - Own work, CC BY-SA 3.0.
Via Wikimedia Commons[12]
Gross specimen of familial adenomatous polyposis. By Dr. Roshan Nasimudeen - Department of Pathology, Government Medical College, Kozikode, CC BY-SA 3.0.
Via Wikimedia Commons[13]

Microscopic Pathology

Hyperplastic polyp of the Colon. By Patho - Own work, CC BY-SA 3.0.
Via Wikimedia Commons [14]
Micrograph of a colorectal hyperplastic polyp. H&E stain. By Nephron - Own work, CC BY-SA 3.0.
Via Wikimedia Commons [15]
Colon adenoma By No machine-readable author provided. KGH assumed (based on copyright claims). - No machine-readable source provided. Own work assumed (based on copyright claims)., CC BY-SA 3.0.
Via Wikimedia Commons [16]


  1. 1.0 1.1 King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.
  2. Nieuwenhuis, M.H.; Vasen, H.F.A. (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature". Critical Reviews in Oncology/Hematology. 61 (2): 153–161. doi:10.1016/j.critrevonc.2006.07.004. ISSN 1040-8428.
  3. Half, Elizabeth; Bercovich, Dani; Rozen, Paul (2009). "Familial adenomatous polyposis". Orphanet Journal of Rare Diseases. 4 (1): 22. doi:10.1186/1750-1172-4-22. ISSN 1750-1172.
  4. 4.0 4.1 Kim, Eun Ran (2014). "Colorectal cancer in inflammatory bowel disease: The risk, pathogenesis, prevention and diagnosis". World Journal of Gastroenterology. 20 (29): 9872. doi:10.3748/wjg.v20.i29.9872. ISSN 1007-9327.
  5. Brensinger JD, Laken SJ, Luce MC, Powell SM, Vance GH, Ahnen DJ, Petersen GM, Hamilton SR, Giardiello FM (1998). "Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene". Gut. 43 (4): 548–52. PMC 1727294. PMID 9824584.
  6. Iaquinto, Gaetano; Fornasarig, Mara; Quaia, Michele; Giardullo, Nicola; D'Onofrio, Vittorio; Iaquinto, Salvatore; Di Bella, Simone; Cannizzaro, Renato (2008). "Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis". Gastrointestinal Endoscopy. 67 (1): 61–67. doi:10.1016/j.gie.2007.07.048. ISSN 0016-5107.
  7. Amos-Landgraf JM, Kwong LN, Kendziorski CM, Reichelderfer M, Torrealba J, Weichert J, Haag JD, Chen KS, Waller JL, Gould MN, Dove WF (2007). "A target-selected Apc-mutant rat kindred enhances the modeling of familial human colon cancer". Proc. Natl. Acad. Sci. U.S.A. 104 (10): 4036–41. doi:10.1073/pnas.0611690104. PMC 1805486. PMID 17360473.
  8. Roy, Hemant K.; Khandekar, Janardan D. (2012). "APC Gene Testing for Familial Adenomatosis Polyposis". JAMA. 308 (5): 514. doi:10.1001/jama.2012.9516. ISSN 0098-7484.
  9. Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.
  10. Kennedy, Raelene D.; Potter, D. Dean; Moir, Christopher R.; El-Youssef, Mounif (2014). "The natural history of familial adenomatous polyposis syndrome: A 24year review of a single center experience in screening, diagnosis, and outcomes". Journal of Pediatric Surgery. 49 (1): 82–86. doi:10.1016/j.jpedsurg.2013.09.033. ISSN 0022-3468.
  11. "File:Congenital hypertrophy of the retinal pigment epithelium.jpg - Wikimedia Commons".
  12. "File:Familial Adenomatous Polyposis intestine.jpg - Wikimedia Commons".
  13. [+https://commons.wikimedia.org/w/index.php?curid=63631954 "File:Familial adenomatous polyposis.jpg - Wikimedia Commons"] Check |url= value (help).
  14. https://commons.wikimedia.org/w/index.php?curid=19409502
  15. https://commons.wikimedia.org/w/index.php?curid=6427545
  16. https://commons.wikimedia.org/w/index.php?curid=444694

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