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Muir-Torre syndrome – a case report and review of literature

2009; Volume: 9; Issue: 2 Linguagem: Inglês

10.5580/2d2

1528-8307

Adam A. Pettey, John Walsh,

DNA Repair Mechanisms

The presence of sebaceous skin tumors with visceral neoplasms is known as Muir-Torre syndrome (MTS). It is a phenotypic subset of hereditary nonpolyposis colorectal cancer and is caused by mutations in genes encoding for mismatch repair (MMR) proteins. The presence of a sebaceous gland neoplasm should raise concern for a potential diagnosis of MTS. Immunohistochemical analysis of the sebaceous skin tumors can be helpful in screening for an MMR defect and preselecting patients who are at increased risk of a visceral malignancy. We report a case of MTS and show immunohistochemical analysis of the sebaceous neoplasm. We also review the literature on MTS and the effectiveness of immunohistochemical analysis in screening patients at risk for MTS.