Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome

Background: We investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder increased cancer susceptibility, and examined mutations other than DNA (MMR) genes. Methods: This retrospective single-center case series included seven diagnosis precise medical history family history. Mutational analysis tumor samples Formalin-fixed paraffin-embedded tissue blocks lesions associated were used for further analysis. All analyzed Oncomine Comprehensive Assay v3 (Life Technologies), which includes 161 most relevant driver Results: Eleven neoplasms (nine sebaceous tumors, one melanoma, cutaneous squamous cell carcinoma) diagnosed patients. In two patients, visceral malignancies preceded patient was malignancy after tumor. History familial Lynch (LS) reported three The frequently detected mutation MSH2 gene, followed by NOTCH1/2 TP53 gene. Conclusion, this study provides molecular non-associated Syndrome. Patients should undergo microsatellite instability accurate evaluation personal to detect possible syndrome. As secondary may appear years first occurrence lifelong screening is mandatory.