Review of the current medical literature and assessment of current utilization patterns regarding mismatch repair protein immunohistochemistry in cutaneous Muir–Torre syndrome‐associated neoplasms |
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| Authors: | Jason B. Lee Brandon R. Litzner Claudia I. Vidal |
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| Affiliation: | 1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania;2. Departments of Dermatology and Pathology, Via Christi Clinic, Ascension Medical Group, Wausau, Wisconsin;3. Department of Family Medicine, University of Kansas Medical Center‐Wichita, Wichita, Kansas;4. Departments of Dermatology and Pathology, Saint Louis University School of Medicine, St. Louis, Missouri |
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| Abstract: | ![]()
Muir–Torre syndrome is a clinical variant of Lynch syndrome defined by the synchronous or metachronous occurrence of at least one sebaceous neoplasm and at least one Lynch syndrome‐related internal cancer. Although screening guidelines for patients with colorectal carcinomas have been established, screening guidelines for cutaneous Muir–Torre associated neoplasms are not currently available. As such, we reviewed the current evidence for the use of MLH1, MSH2, MSH6 and PMS2 immunohistochemistry when cutaneous Muir–Torre associated neoplasms are encountered. We identified weak to moderate support overall for the global use of these assays, with some evidence suggesting a tailored approach using clinical parameters as an adjunct. We also assessed the current utilization patterns of attendees of the American Society of Dermatopathology Annual Meeting (Chicago, 2016). We found that 91% of respondents utilize mismatch repair immunohistochemistry, with the majority utilizing these tests only when requested by the submitting clinician. |
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| Keywords: | immunohistochemistry in situ hybridization Muir– Torre syndrome |
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