Genes
Which gene is associated with FAP?
APC
What is the most common polyp type?
Tubular adenomas
Besides polyps, what feature is associated with Peutz-Jegher Syndrome?
Hyperpigmentation of mouth, lips, nose, eyes, genitalia, or fingers
What screening is recommended for individuals with Serrated Polyposis Syndrome?
Colonoscopy every 1-3 years depending on size/number of polyps
Turcot Syndrome is associated with what cancer risks?
Colon and brain cancer
Which gene is associated with Peutz-Jeghers Syndrome?
STK11
Which polyp type is associated with the lowest cancer risks?
Hyperplastic polyps (non-neoplastic)
Which cancer gene is highest on your differential for a patient presenting with juvenile polyps, recurrent nosebleeds, and arteriovenous malformations?
SMAD4
What are the screening and management recommendations for FAP?
Annual colonoscopy from puberty until total colectomy at age ~20, followed by screening for duodenal, small bowel, and thyroid cancer
Which syndrome is associated with PTEN mutations and breast cancer?
Cowden Syndrome
Which two genes are associated with Juvenile Polyposis Syndrome?
SMAD4 and BMPR1A
Which polyp type is hardest to detect on a colonoscopy?
Serrated adenomas
Which tumor type can be associated with FAP and not MAP?
Extraintestinal tumors
For individuals with Juvenile Polyposis Syndrome, at what age should their screening begin and what type of screening should be performed?
Colonoscopy and upper endoscopy every 2-3 years beginning at age 12-15 (puberty)
Which syndrome is associated with carpeting of polyps?
Familial Adenomatous Polyposis (FAP)
Which two genes are associated with Polymerase Proofreading-Associated Polyposis?
POLD1 and POLE
Inflammatory polyps are typically found in which non-cancerous disease?
Inflammatory bowel disease (Crohn's disease or ulcerative colitis)
AXIN2 mutations are associated with adenomas and what other features?
Oligodontia and features of ectodermal dysplasia
At what ages are breast, thyroid, colon, endometrial, and renal cancer screenings recommended to begin for individuals with Cowden Syndrome?
- Breast: 18
- Thyroid: 7
- Colon: 35
- Endometrial: 35
- Renal: 40
Which rare syndrome is associated with fundic gland polyposis of the stomach and no colorectal or duodenal polyposis?
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS)
Which three genes are associated with polyposis syndromes that are recessive?
MUTYH, MSH3, and NTHL1
What polyp pattern can be identified in individuals with Peutz-Jeghers Syndrome?
Hamartomas in a "Christmas tree" pattern
MBD4 mutations are associated with adenomas and which other cancer/tumor types?
Acute myeloid leukemia, ocular melanoma, and schwannoma
For a 12-year-old male patient with Peutz-Jeghers Syndrome who has already had a baseline colonoscopy and upper endoscopy, what other screening would you recommend for him before age 18?
Testicular ultrasound
You have a patient with a history of desmoid tumors and dental anomalies and a colonoscopy that identified over 100 polyps. What historical term may be used to describe this syndrome?
Gardner Syndrome