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]

Overview

Genes involved in the pathogenesis of familial adenomatous polyposis include APC and MUTYH genes.

Genetics

• Familial adenomatous polyposis may have different inheritance patterns and genes involved.
• Familial adenomatous polyposis is due to mutations in different genes, including:
  • APC gene, which is located on chromosome 5 in band q21 or band q22 (5q21-q22)
  • MUTYH gene, which is located on chromosome 1 between bands p34.2 and p32.1 (5p34.3-p32.1)

• Familial adenomatous polyposis has autosomal dominant inheritance pattern if it results from mutations in the APC gene.
• Familial adenomatous polyposis has autosomal recessive inheritance pattern if it results from mutations in the MUTYH gene.

Associated Conditions

Familial adenomatous polyposis is associated with other gastrointestinal and extra intestinal conditions including:

Gastrointestinal conditions

• Duodenal adenoma
• Stomach adenoma
• Periampullary cancer
  • The risk is approximately 10%.
• Pancreatic cancer
  • The risk is approximately 2%.
• Hepatoblastoma

Extra intestinal conditions

• Adrenal masses
• Desmoid tumor
  • The risk is approximately 10% to 20%.
  • It mostly happens in small bowel mesentery.
• Papillary thyroid cancer
• Medulloblastoma
• Osteomas
  • It is a benign bony growth mainly on jaw
• Congenital hypertrophy of the retinal pigment epithelium 
• Epidermoid cysts and fibromas