Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by the development of numerous adenomatous polyps in the colon and rectum. A germline mutation in the APC gene (adenomatous polyposis coli) present on chromosome 5q21 is the molecular level defect causing this syndrome.
In this case series report, we report two cases of FAP from a single family of 10 members which included parents, four female siblings, and four male siblings. Apart from index cases, the rest of the family members detected to have polyps on colonoscopic evaluation. Literature review, data regarding timely surgery, surveillance, and chemoprevention are discussed.
The FAP phenotype determines the type of treatment. In severe polyposis, proctocolectomy with ileoanal anastomosis is the optimal method for minimizing cancer development risk. Genetic counselling should guide genetic testing and considerations of colectomy. This case report advocates complete rectal removal, especially in cases of poor patient compliance.
How to cite this article:
Dr. Anita Sajjanar, Dr. Jushmita Pathak. Adenocarcinoma of the sigmoid colon in familial adenomatous polyposis syndrome: A case report. Int J Clin Diagn Pathol 2021;4(1):154-157. DOI: 10.33545/pathol.2021.v4.i1c.340