alexa Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm.


Journal of Clinical & Experimental Dermatology Research

Author(s): Abbas O, Mahalingam M

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Abstract Sebaceous gland neoplasms such as adenoma, epithelioma, and carcinoma are uncommon cutaneous tumors. Although sporadic, their occurrence is clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasms and/or keratoacanthomas associated with visceral malignancies that include gastrointestinal and genitourinary cancers. MTS is usually the result of germline mutation in one or more of the DNA mismatch repair (MMR) genes. MMR genes commonly implicated include MSH-2 and MLH-1 and, more recently, MSH-6. Recent evidence suggests that immunohistochemistry is very sensitive and effective in detecting these defects in cutaneous tumors in MTS. In addition, the genetic instability of cutaneous and visceral tumors in MTS caused by the defects in MMR genes can also be detected, using polymerase chain reaction (PCR)-based techniques, for microsatellite instability (MSI). Given that some sebaceous neoplasms represent cutaneous markers of MTS, what should we as dermatopathologists be advocating? Should we be looking for absence/loss of MMRs in all sebaceous neoplasms? When should we recommend assaying for MSI? This review attempts to address all of these issues with a view to streamlining the work-up of a patient presenting for the first time with a sebaceous neoplasm and no prior personal or family history of internal malignancies. This article was published in J Cutan Pathol and referenced in Journal of Clinical & Experimental Dermatology Research

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