Familial adenomatous polyposis associated APC gene mutation - A case study
Journal Title: Journal of Medical and Allied Sciences - Year 2013, Vol 3, Issue 2
Abstract
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 eliminates 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.
Authors and Affiliations
Avinash Bardia| Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Kanchanbagh, Hyderabad-500058, Andhra Pradesh, India, Santosh K. Tiwari| Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Kanchanbagh, Hyderabad-500058, Andhra Pradesh, India, Sandeep K. Vishwakarma| Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Kanchanbagh, Hyderabad-500058, Andhra Pradesh, India, Md. Aejaz Habeeb| Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Kanchanbagh, Hyderabad-500058, Andhra Pradesh, India, Pratibha Nallari| Department of Genetics, Osmania University, Hyderabad-500007, Andhra Pradesh, India, Aleem A. Khan| Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Kanchanbagh, Hyderabad-500058, Andhra Pradesh, India
Keywords
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