Divinskaya Valentina Alexandrovna (Associate Professor of the Department of Pediatrics with a course of pediatric infectious diseases, Institute "S.I.Georgievsky Medical Academy", Simferopol)
Balakchina Anna Igorevna (Assistant of the Department of Pediatrics with a course of pediatric infectious diseases, Institute "S.I.Georgievsky Medical Academy", Simferopol)
Blagovestnaya Ekaterina Igorevna (student, Institute "S.I.Georgievsky Medical Academy", Simferopol)
Sereda Elizaveta Vladimirovna (student, Institute "S.I.Georgievsky Medical Academy", Simferopol)
Enzel Darya Anatolyevna (student, Institute "S.I.Georgievsky Medical Academy", Simferopol)
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Muir-Torre syndrome (SMT) was first described in 1967 by Muir, and in 1968 by Torre. Muir-Torre syndrome is a disease with an autosomal dominant type of inheritance, which is a phenotypic variant of hereditary non-polypous colorectal cancer (HNPCC), also known as Lynch syndrome. The syndrome is caused by mutations in DNA mismatch repair genes, which leads to microsatellite instability. Distinctive features of Muir-Torre syndrome are skin neoplasms and visceral malignant neoplasms, the most common of which is colon carcinoma. The association of mismatch repair gene mutations and visceral malignancies requires earlier and more frequent assessment for malignancy.
Keywords:Muir-Torre syndrome, Lynch syndrome, keratoacanthomas, immunohistochemistry, MLH1, MSH2, MSH6 and PMS2
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Citation link:
Divinskaya V. A., Balakchina A. I., Blagovestnaya E. I., Sereda E. V., Enzel D. A. MUIR-TORRE SYNDROME // Современная наука: актуальные проблемы теории и практики. Серия: Естественные и Технические Науки. -2023. -№02/2. -С. 169-172 DOI 10.37882/2223–2966.2023.02–2.14 |
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