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Familial Adenomatous Polyposis (FAP) - Screening & Diagnosis: It is important to diagnose FAP in the asymptomatic stage by screening the relatives of an affected patient. At-risk family members can be offered genetic testing for APC mutations starting at age 10 to 12 years. Testing for APC mutations is done by DNA sequencing on leukocytes separated from a whole blood sample. Several commercial laboratories offer the assay.
Children who test positive are offered sigmoidoscopy. Colonoscopy is, however, the preferred diagnostic method since it can exclude carcinoma elsewhere in the colon. The presence of more than 100 adenomas establishes the diagnosis of FAP.
About the Disease
Introduction: A gastrointestinal polyp is any discrete mass of tissue protruding into the lumen. They can occur anywhere in the GI tract but are most common in the colo-rectal region. They may be pedunculated (with a well-defined stalk) or sessile (broad-based with no stalk). Colonic polyps are subdivided into two major groups: non-neoplastic and neoplastic. Non-neoplastic group includes hyperplastic polyps, hamartomatous polyps (juvenile polyps, Peutz-Jeghers polyps), inflammatory polyps and mucosal polyps. Hamartomatous polyps in syndromic settings can show germline mutations in tumor suppressor genes or oncogenes and carry malignant potential. Submucosal lesions may also lift the mucosa giving it a polypoid appearance. Neoplastic polyps show epithelial dysplasia by definition and include adenomas and carcinomas. Adenomas can be tubular, tubulovillous, or villous based on the glandular architecture. Serrated adenomas, which are related to hyperplastic polyps, have malignant potential and are now considered neoplastic. References: 1. Feldman, M., Friedman, L. S., & Brandt, L. J. (2016). Sleisenger & Fordtrans Gastrointestinal & Liver Disease; 10th Edition. Philadelphia, PA. Elsevier Saunders. 2. Goldblum, J. R. et al (2018). Rosai and Ackermans Surgical Pathology; Eleventh Edition. Philadelphia, PA. Elsevier. 3. Kumar, V., Abbas, A. K., & Aster, J. C. (2015). Robbins and Cotran Pathologic Basis of Disease; Ninth Edition. Philadelphia, PA. Elsevier.