pathology 6 - Colonic polyps Polyposis syndromes Lynch syndrome Colorectal cancer Molecular pathogenesis of colorectal cancer Flashcards
A man has a biopsy of a colonic polyp. The more ____ (villous/sessile/tubular/hyperplastic) it is, the more likely that it is malignant.
Villous
Your 50-year-old patient has a history of hyperplastic polyps. On colonoscopy, where do you most expect to find new hyperplastic polyps?
In the rectosigmoid area
A child with rectal discomfort has a single rectal juvenile polyp on colonoscopy. He is otherwise well. Should be polyp be urgently removed?
No; there is no malignant potential if it is truly the only juvenile polyp
The malignancy risk of adenomatous polyps is not associated with ____ (degree of dysplasia/villous histology/size/symptoms).
Symptoms
What type of polyp is considered a precursor for colorectal cancer?
Adenomatous polyps
List these three adenomatous polyp subtypes in order of their potential for malignant transformation, from lowest to highest.
Tubular adenomas, tubulovillous adenoma, villous adenomas
What two conditions are associated with the formation of hamartomatous polyps?
Peutz-Jeghers syndrome and juvenile polyposis
adenomatous colonic polyps genes
APC and KRAS, which are commonly mutated via the chromosomal instability pathway in neoplastic polyps
A patient has a colonoscopy. Polyps are biopsied, and “saw tooth” crypts are seen. Is there a risk of progression to colorectal cancer?
Yes, as the biopsy description is consistent with serrated polyps, which are premalignant (~20% of sporadic colorectal cancer cases)
What genetic mutations are associated with serrated polyps?
The CpG hypermethylation phenotype pathway with microsatellite instability, and mutations in BRAF
A 12-year-old boy is found to have several polyps in his colon, stomach, and small bowel. For what cancer is he at risk?
Adenocarcinoma (this is likely juvenile polyposis syndrome)
A man has GI tract hamartomas and dark patches around his mouth and palms. He asks if his son will be affected by this disorder. Your reply?
The probability is 50% (this patient has Peutz-Jeghers syndrome, an autosomal dominant disorder)
A patient has multiple GI tract hamartomas and hyperpigmented hands, mouth, lips, and genitalia. What cancers is he at increased risk for?
Increasing risk for colorectal, breast, stomach, small bowel, pancreatic cancers (the patient has Peutz-Jeghers syndrome)
A patient inherits a mutation of the APC gene on chromosome 5q. He asks about his risk for colorectal cancer. What do you tell him?
The patient has familial adenomatous polyposis syndrome; there is 100% progression to CRC if the colon is not removed
A 28-year-old man with a history of familial adenomatous worries about his newborn son and asks what the inheritance pattern is.
Autosomal dominant (patients inherit one faulty copy of the gene and lose the other through an acquired mutation [two-hit hypothesis])
Familial adenomatous polyposis involves mutation of the ____ gene on chromosome ____. This disease follows the ____ hypothesis
APC, 5q; two-hit