Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation (open access) Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Friday, March 11, 2016

Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation (open access)



open access

 Early detection of malignancy is crucial in implementing proper treatment regimes for these patients. Strong indicators of MTS include multiple sebaceous neoplasms, yet only a single tumor can represent the syndrome. Evaluation of patients with just one sebaceous neoplasm of any type for colonic adenocarcinoma is recommended.[1]

 Muir-Torre syndrome is a rare, autosomal dominant genodermatosis characterized by the presence of at least one sebaceous gland neoplasm, associated with an underlying visceral malignancy. Muir-Torre syndrome is believed to be a subtype of Lynch Syndrome. Affected individuals are found to have germline mutations predominantly in DNA mismatch repair gene MSH2, and much less frequently, MLH1. The authors report the case of a 55-year-old woman presenting with multiple cutaneous neoplasms including sebaceoma, basal cell carcinoma, and squamous cell carcinoma; personal history of colorectal and endometrial cancer; and family history of colorectal cancer; found to have a deletion at mismatch repair gene MLH1. It is important to recognize the role of these less common gene deletions in producing the Muir-Torre syndrome phenotype, and consider the correlation of cutaneous manifestations with internal disease. The authors discuss the clinical presentation of Muir-Torre syndrome, methods of diagnosis, and the importance of regular medical surveillance to detect and prevent disease progression in Muir-Torre syndrome patients and their family members.

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