Mehlman. Polyp conditions+colorectal 10-27 (1) Flashcards
Lynch syndrome (HNPCC).
Mismatch repair genes MSH2/6, MLH1, PMS2.
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Lynch syndrome (HNPCC). mutations cause what?
microsatellite instability.
Lynch syndrome (HNPCC).
Hereditary non-polyposis colorectal cancer.
Lynch syndrome (HNPCC). assoc with what cancer?
Its colonic polyps/cancer; also associated with gynecologic cancer.
Lynch syndrome (HNPCC). when start colonoscopy?
Start colonoscopy at age 20-25, then do every 1-2 years.
Familial Adenomatous Polyposis (FAP); chromosome 5; AD.
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FAP. Hundreds to thousands of polyps on colonoscopy; 100% cancer risk.
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FAP. when start colonoscopy?
Start colonoscopy at age 10-12 and do every 1-2 years. Then do prophylactic proctocolectomy at age 18 (on NBME).
FAP + soft tissue (e.g., lipoma) or bone tumors (e.g., of the skull) = syndrome?
Gardner syndrome.
FAP + CNS tumors = syndrome?
Turcot syndrome
Peutz-Jeghers. definition?
Combo of perioral melanosis and HAMARTOMATOUS colonic polyps.
Peutz-Jeghers. screening?
Start colonoscopy at age 8, then do every 1-2 years.
Juvenile polyposis. Shows up on a 2CK NBME.
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Juvenile polyposis.
Q will tell you there’s a teenager (i.e., juvenile, LOL!) with intermittent bleeding
per rectum + colonoscopy shows scattered polyps + biopsy shows “dilated, cystic,
mucus-filled glands with abundant lamina propria and inflammatory infiltrates”
-> answer = juvenile polyposis.
Only question I’ve seen on it, but it’s on new 2CK NBME so I have to mention it.
Hyperplastic polyps.
All you need to know is these are not pre-cancerous / have no dysplasia.
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