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Lynch syndrome : a family case report
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Síndrome de Lynch (anteriormente conhecido como Síndrome do cancro colo-rectal não polipóide hereditário) é uma doença autossómica dominante caracterizada pelo desenvolvimento de cancro colo-rectal e/ou outros tumores extracolónicos. Esta predisposição cancerígena doo Síndrome de Lynch resulta de uma mutação ao nível dos genes mismatch repair e inclui mutações nos genes MLH1, MSH2, MSH6, PMS2, MLH3, MSH3 e PMS1. As mutações mais frequentes ocorrem nos genes MSH2 e MLH.
Neste caso clínico apresentamos uma senhora de 37 anos, com história de cancro colo-rectal tratado por colectomia parcial do cólon ascendente que, mais tarde, desenvolve um tumor do ovário. O estudo genético subsequente revelou mutação do gene MLH1 e o seu genograma familiar demostrou uma evidente predisposição familiar para o Síndrome.
Lynch Syndrome (formerly known as hereditary nonpolyposis colorectal cancer) is an autosomal dominant syndrome characterized by the development of colorectal cancer and other extracolonic tumors. Tumor predisposition in Lynch Syndrome is due to germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, PMS2, MLH3, MSH3 and PMS1. Mutations in MSH2 and MLH1 account for the most common germline mutations. In this case present a 37-year old female with history of colorectal cancer treated by partial colectomy. The patient later developed a primary ovarian cancer requiring surgical resection. Genetic testing revealed a MLH1 gene mutation and the genogram showed a clear hereditary predisposition.
Lynch Syndrome (formerly known as hereditary nonpolyposis colorectal cancer) is an autosomal dominant syndrome characterized by the development of colorectal cancer and other extracolonic tumors. Tumor predisposition in Lynch Syndrome is due to germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, PMS2, MLH3, MSH3 and PMS1. Mutations in MSH2 and MLH1 account for the most common germline mutations. In this case present a 37-year old female with history of colorectal cancer treated by partial colectomy. The patient later developed a primary ovarian cancer requiring surgical resection. Genetic testing revealed a MLH1 gene mutation and the genogram showed a clear hereditary predisposition.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2015
Palavras-chave
Lynch syndrome Colorectal cancer MLH1 germline mutation