Genetically Confirmed MUTYH-Associated Polyposis in Ecuador: A Model Case for Oncologic Surgery

MUTYH-associated polyposis (MAP) is a rare autosomal recessive syndrome caused by biallelic mutations in the MUTYH gene, responsible for about 1% of colorectal cancers (CRCs). We present the case of a 58-year-old female with abdominal pain, changes in bowel habits, and anemia. Colonoscopy revealed multiple polyps and synchronous sigmoid tumor. Pathology confirmed multiple adenomas and adenocarcinoma. Genetic testing confirmed MAP. The patient underwent laparoscopic total proctocolectomy with terminal ileostomy. The postoperative course was uneventful. This case highlights the importance of genetic testing and early surgical intervention in MAP to reduce CRC risk.