BG13 A rare case of Muir–Torre syndrome

Abstract Muir–Torre syndrome is a rare variant of hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome. It caused by defect in mismatch repair genes, which are most commonly inherited an autosomal dominant fashion. characterized clinically sebaceous neoplasms the skin associated with at least one visceral malignancy, colon cancer being frequent. The common genetic defects responsible MLH1, MSH2 and MSH6, results increased frequency unrepaired base mismatching during DNA replication subsequent microsatellite instability, predisposing to cancer. We present case 59-year-old man history who was referred rapidly growing irregular nodule on his lower back for past 2 months, concerning amelanocytic melanoma. An excision biopsy arranged, histology demonstrated sebaceoma. Immunohistochemistry genes showed loss expression MSH6. Upon further questioning, it found that he had strong family (father, brother two sisters), developed 36 years age, treated pancolectomy. Genetic testing revealed mutation MSH2. Given this history, annual follow-up arranged surveillance.