Intussusception reveals MUTYH-related polyposis syndrome and colorectal cancer

a case report

Palavras-chave: Neoplasias Colorretais Hereditárias, Intussuscepção, MUTYH, Polipose


We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and almost always related to tumors. Approximately 5% of colorectal cancers can be attributed to syndromes known to cause hereditary colorectal cancer, such as MUTYHassociated polyposis, autosomal genetic syndrome associated with this disease. We present the case of a 44 years old male, that sought medical consultation with a complaint of abdominal discomfort, that after five days changed its characteristics. The patient was sent to the emergency department were a CT-scan revealed intestinal sub-occlusion by ileocolic invagination. Right colectomy was carried out. The anatomic-pathological examination revealed a moderately differentiated mucinous adenocarcinoma and multiples sessile polyps, which led to the suspicion of a genetic syndrome. In the genetics analysis two mutations were observed in the MUTYH gene, and MUTYH-associated polyposis was diagnosticated. This case demonstrates the importance of meticulous analysis of the patient examinations results to identify possible discrete alterations that can lead to improved understanding of disease.


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Nii, F., Medeiros, K. A., Carvalho, B., Martines, D., Mesquita, G., Waisberg, D., & Meyer, A. (2018). Intussusception reveals MUTYH-related polyposis syndrome and colorectal cancer. Revista De Medicina, 97(Suppl.1), 10-10.
COMU - Oswaldo Cruz Awards - Case Report