RESUMO
MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis. For the development of the disease mutations in both alleles of the gene are required, but an increased risk of developing colorectal cancer in carriers of monoallelic mutations is noted. The diagnosis of MutYH-associated polyposis should be suspected in a patient with colorectal cancer over 45 years old on the background of polyps in the colon. The review presents modern algorithms for diagnostic and treatment of the disease.
Assuntos
Proteína da Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/genética , Neoplasias Colorretais/genética , DNA Glicosilases/genética , Predisposição Genética para Doença/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , FenótipoRESUMO
Turcot syndrome is a rare hereditary syndrome characterized by a combination of brain tumors and colorectal cancer. According to the literature, about 150 such cases have been reported. This article presents a rare clinical case and a literature review.