Familial adenomatous polyposis associated APC gene mutation - A case study

• Main Author: Avinash Bardia1, Santosh K. Tiwari1, Sandeep K. Vishwakarma1, Md. Aejaz Habeeb1, Pratibha Nallari2, Aleem A. Khan1
• Format: Article
• Language: English
• Published: Deccan College of Medical Sciences 2013-08-01
• Series: Journal of Medical and Allied Sciences
• Subjects: APC gene; colorectal cancer; FAP
• Online Access: http://www.jmas.in/Vol3Issue2/Familial%20adenomatous%20polyposis%20associated%20APC%20gene%20mutation%20-%20A%20case%20study.pdf

Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterized by diffuse intestinal polyposis, specific gene mutation, and predisposition for developing colon cancer. Left untreated, patients with FAP will develop colorectal carcinoma during early adulthood. Hence, early detection and surgical intervention are of the utmost importance. Colectomy is required and may include an ileal pouch with ileo-anal anastomosis, which eli-minates the colon and rectal disease while preserving fecal continence and avoidance of a permanent ileostomy. We report a case of colorectal cancer along with FAP showed features consistent with adenomatous polyposis coli and no evidence of malignancy was seen after the surgery.