Numerous polyposis syndromes may present with gastrointestinal (GI) polyps. Hereditary types include familial adenomatous polyposis and hamartomatous polyposis, and other rare polyposis syndromes. Molecular genetic testing enables differential diagnosis of GI polyposis syndromes often defined with overlapping and indistinguishable phenotypes.
Familial adenomatous polyposis (FAP), MUTYH-associated polyposis, BMPR1A-related juvenile polyposis, SMAD4-related juvenile polyposis, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome are included in the testing.
Indications for genetic testing:
- Confirmation of clinical diagnosis
- Testing of individuals with family history of polyposis syndromes
- Differentiation of FAP from MUTYH-associated polyposis
- Differentiation of juvenile polyposis from other hamartomatous polyposis syndromes
- Genetic counseling
Bronner MP. Gastrointestinal Inherited Polyposis Syndromes. Mod Pathol 2003;16(4):359–365
Jasperson KW, Burt RW. APC-Associated Polyposis Conditions. GeneReviews® 1998 December 18 (Updated 2014 March 27).