Pathophysiology
familial polyposis syndrome with association of large intestine adenomatous polyps and brain tumors
Histology/Gross Pathology
1) polyps are adenomas 2) polyps are found uniformly throughout colon and rectum (no skip areas)
Associated Conditions
colorectal adenocarcinoma develops in virtually 100% of patients by age 40 years
Biochemistry
impaired DNA repair occurs
Inheritance/Epidemiology
1) polyps almost always present after puberty 2) associated with deletion in long arm of chromosome 5 that codes for tumor suppressor gene APC 3) autosomal dominant
Treatment
1) total colectomy with ileoanal anastomosis 2) screening test in offspring (who have 50% risk of disease) is flexible sigmoidoscopy (if disease occurs, there is always rectal involvement
Tips for USMLE
in any patient who has both colon cancer and any type of brain tumor, think Turcot’s
Leave a Reply