MUTYH Associated Polyposis Coli: One Common and One Rare Mutation

Excerpt

A 52-year-old Caucasian male with no significant medical history presented at our Department of Gastroenterology several years ago with vague complaints of abdominal distension, fecal urgency, and occasional hematochezia. There was no abdominal pain or weight loss. Familial history was unremarkable. Digital rectal examination revealed tumor at the tip of the finger, confirmed by rectoscopy as a fragile, non-obstructive lesion surrounded by multiple small polyps. A colonoscopy was performed which showed approximately 100 small sessile or pedunculated polyps throughout the large bowel. At 9 cm from the anal margin a concentric polypoid mass was identified, showing central ulceration. Pathological examination confirmed the presence of an invasive adenocarcinoma with strong CEA immunoreactivity. Biopsies of other polyps disclosed tubulovillous adenomata. Endoscopic ultrasound examination suggested penetration of the cancerous growth into the muscular layer. No metastatic disease was identified by CT examination of the abdomen. Final staging of the rectal tumor was T3N0M0. …