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Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: de Mesquita, Gustavo Heluani Antunes, Carvalho, Bárbara Justo, de Almeida Medeiros, Kayo Augusto, Nii, Fernanda, Martines, Diego Ramos, Pipek, Leonardo Zumerkorn, Jardim, Yuri Justi, Waisberg, Daniel Reis, Obara, Marcos Takeo, Sitnik, Roberta, Meyer, Alberto, Mangueira, Cristóvão Luis Pitangueiras
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451307/
https://www.ncbi.nlm.nih.gov/pubmed/30953464
http://dx.doi.org/10.1186/s12885-019-5505-8
Descripción
Sumario:BACKGROUND: 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 MUTYH-associated polyposis, autosomal genetic syndrome associated with this disease. CASE PRESENTATION: 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. CONCLUSION: 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.