Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by hundreds to thousands of polyps in the epithelium of the large intestines with an autosomal dominant inheritance caused by germ line mutations in APC (adenomatous polyposis coli) gene in chromosome 5q21. Patients with FAP develop numerous polyps throughout their colon and rectum. They generally tend to have a higher chance of developing colon cancer if left untreated. Often colectomy is the choice of treatment in such patients. Timely screening for associated colorectal carcinoma in such patients helps in early detection, appropriate management and follow up. Most FAP patients have a family history of colorectal polyps and cancer but few (around 30%) of them are "de novo" and present without any clinical ndings or genetic evidence of FAP in members of their family. We present a case of a patient with FAP incidentally diagnosed to have colorectal adenocarcinoma after total proctocolectomy
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Talukder et al. (2024) studied this question.
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