Prophylactic subtotal colectomy in a patient with an AXIN2 mutation

Area of Science:

• Genetics
• Gastroenterology
• Oncology

Background:

• Genetic syndromes significantly increase colon cancer risk, enabling targeted surveillance and treatment.
• However, many genetic predispositions to colorectal cancer remain uncharacterized.
• Oligodontia-colorectal cancer syndrome (OCS) is a rare genetic disorder linked to the Axin2 gene.

Purpose of the Study:

• To report a case of a patient with multiple colonic polyps and a novel Axin2 mutation.
• To emphasize the association between Axin2 mutations, oligodontia, and colorectal cancer.
• To highlight the need for developing management guidelines for patients with Axin2 mutations.

Main Methods:

• A 50-year-old woman underwent screening colonoscopy, revealing over 50 polyps.
• Genetic sequencing was performed to identify the underlying cause of the polyposis.
• A review of the patient's family history and dental status was conducted.

Main Results:

• Genetic analysis identified a mutation in the Axin2 gene.
• The patient presented with oligodontia (missing permanent teeth), consistent with OCS.
• The patient's mother also had a history of multiple colonic polyps and oligodontia.

Conclusions:

• Axin2 mutations are associated with a rare syndrome involving oligodontia and increased risk of colorectal polyps.
• The rarity of Axin2 mutations necessitates further case documentation to establish clinical management guidelines.
• Thorough systemic reviews are crucial during colon cancer screening to identify rare genetic predispositions.