Image Description
Gross Pathology of Familial Adenomatous Polyposis (FAP): Colectomy specimens show 1000 or more macroscopic lesions in average cases. Most polyps are smaller than 1 cm in size. APC gene mutations between codons 1250 and 1464 (especially around codon 1300) are associated with more profuse polyp formation (similar to the case shown here). Mutations near the extreme 5' and 3' ends of the APC gene produce fewer polyps and cause attenuated FAP. About 25% of FAP patients have cancer at the time of colectomy.
Image courtesy of Dr. Jean-Christophe Fournet, Paris, France; humpath.com; Used with permission
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.