Abstract

CASTRO-MUJICA, María del Carmen; BARLETTA-CARRILLO, Claudia; ACOSTA-ALIAGA, Marisa  and  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.

Keywords : Lynch syndrome; Muir-Torre syndrome; Keratoacanthoma; Microsatellite instability.

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