Prophylactic subtotal colectomy in a patient with an AXIN2 mutation.

Abstract

A number of genetic syndromes that predispose patients to colon cancer have been well described, allowing for improved surveillance, diagnosis and treatment. However, other syndromes likely exist but have yet to be thoroughly characterized. I report the case of a 50-year-old woman who was found to have over 50 polyps on routine screening colonoscopy. Genetic sequencing revealed a mutation in Axin2, a rare gene implicated in oligodontia-colorectal cancer syndrome. It was later found that the patient lacks several permanent teeth, as does her mother, who also had a history of multiple colonic polyps. Given the rarity of Axin2 mutations, there are no guidelines for management of such patients. This highlights the importance of a thorough review of system when screening for colon cancer as well as documenting cases of Axin2 mutations to create management guidelines for these patients.