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pubmed-article:19069357pubmed:abstractTextMuir-Torre Syndrome (MTS) is a rare autosomal-dominant disorder characterized by the predisposition to both sebaceous neoplasm and internal malignancies. MTS-associated sebaceous neoplasms reveal mutations in DNA mismatch repair (MMR) genes and microsatellite instability. A significant part of MTS patients represents a phenotypic variant, the hereditary nonpolyposis colorectal cancer (HNPCC). A strong correlation between microsatellite instability and immunostaining has been demonstrated. The early recognition of sebaceous neoplasm as part of MTS, and their differentiation from sporadic sebaceous neoplasm may have an important application in a clinical setting. The absence of MLH-1 or MSH-2 expression by immunostaining identifies tumors with mismatch repair deficiency.lld:pubmed
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pubmed-article:19069357pubmed:articleTitleMSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms.lld:pubmed
pubmed-article:19069357pubmed:affiliationDepartment of Dermatology, School of Medicine, University of Puerto Rico, San Juan, PR. amorales@rcm.upr.edulld:pubmed
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