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Clinicopathological and molecular biologic characteristics of selected cutaneous epithelial and nonepithelial tumors
Kastnerova, Liubov ; Kazakov, Dmitry (advisor) ; Šíma, Radek (referee) ; Feit, Josef (referee)
The doctoral thesis MD. Liubov Kastnerova (previous name Kyrpychova) is focused on the histomorphological and molecular biologic features of selected cutaneous epithelial and nonepithelial tumors and is structured as a commentary to the 20 articles published during four years, representing the completed scientific projects in the Ph.D. course. In eight papers, the author of the thesis is the first author, whereas she coauthored in the remaining 12 papers. The thesis is composed of the commented files of authors own publications and it is divided into cutaneous epithelial and nonepithelial tumors. The first section, «Cutaneous epithelial tumors», includes 14 articles that are subdivided into two parts: adnexal tumors (9 articles) and lesions of anogenital mammary-like glands (5 articles). Of the nine articles on adnexal tumors, there are 5 articles focused on various benign and malignant adnexal lesions with apocrine or eccrine differentiation. Novel findings in this part include the identification of hitherto unreported alterations of the MYBL1 gene in adenoid cystic carcinoma of the skin and lack of deletion of the 1p36 locus in this neoplasm; the lack of a correlation between cellular composition and the presence CRTC1-MAML2 fusions in hidradenoma, the absence of CRTC3-MAML2 fusions in this tumor,...
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Genetic alterations of the skin adnexal tumours
Grossmann, Petr ; Kazakov, Dmitry (advisor) ; Daniš, Dušan (referee) ; Halbhuber, Zbyněk (referee) ; Feit, Josef (referee)
1. CYLD gene 1.7 Summary Our team discovered 19 new germinal mutations (22% of all known), with author participating on finding of seven of them. Particularly interesting is the discovery of new intronic mutation of CYLD gene and characterization of molecular biologic processes causing inactivation of the gene. Author also confirmed presence of LOH being the most frequent second inactivating hit. At the same time author found a group of patients with BSS/MFT phenotype carrying no mutation of CYLD gene suggesting that there might exist another gene participating in BSS/MFT pathogenesis. Furthermore genotype-phenotype analysis was performed resulting in no significant correlation. 2. Mismatch repair genes hMLH1, hMSH2, hMSH6 2.9 Summary In this study we have analyzed one patient with Muir-Torre syndrome (MTS) phenotype for causal mutation in mismatch repair (MMR) genes. Most patients with MTS carry mutations in MSH2 and MLH1 gene. Germline mutations in MSH6 are extremely rare, with only 3 cases reported thus far. Here we have described a germline mutation in MSH6 gene in three members of one family. This greatly extends previously published group of patients with MTS syndrome carrying mutation in MSH6 gene. 3. PRKAR1A gene 3.7 Summary In this study we have investigated patient with Carney complex for a...
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