Serviços Personalizados
Journal
Artigo
Indicadores
- Citado por SciELO
Links relacionados
- Similares em SciELO
Compartilhar
Revista de Gastroenterología del Perú
versão impressa ISSN 1022-5129
Resumo
CASTRO-MUJICA, María del Carmen; BARLETTA-CARRILLO, Claudia; ACOSTA-ALIAGA, Marisa e MONTENEGRO-GARREAUD, Ximena. Lynch syndrome, Muir Torre variant: 2 cases. Rev. gastroenterol. Perú [online]. 2016, vol.36, n.1, pp.81-85. ISSN 1022-5129.
Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis.
Palavras-chave : Lynch syndrome; Muir-Torre syndrome; Keratoacanthoma; Microsatellite instability.