- What is the diagnosis?
These are benign tubular adenomas (adenomatous polyps).
- This is thought to be a precursor for what lesion?
Adenomas of the colon are thought to be precursors for colonic adenocarcinoma. Polyps larger than 2 cm have a greater chance for containing an adenocarcinoma. Over time, more genetic mutational "hits" in genes such as APC, SMAD4, and p53 occur in the neoplasm to drive transformation to malignancy.
- Name a syndrome in which the patient has hundreds of these polyps (A gross photograph of such a patient is shown in image 4.4).
The syndrome is familial polyposis coli, with an autosomal dominant inheritance pattern. Colectomy is performed to prevent development of adenocarcinomas.
- Name a syndrome that not only has hundreds of these polyps, but also has osteomas, desmoids, and other extracolonic manifestations.
The syndrome is Gardner syndrome, demonstrating pleiotropy (multiple tissues involved by the genetic condition). There is an autosomal dominant inheritance pattern, but with variable expression. These patients are also at risk for development of gastrointestinal tract adenocarcinomas.