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Clinicopathological, Morphological, Immunohistochemical and Molecular Biological Characteristics of Rare Salivary Tumors
Koshyk, Olena ; Skálová, Alena (advisor) ; Simpson, Roderick (referee) ; Leivo, Ilmo (referee)
The actual dissertation is the result of Olena Koshyk's doctoral study at Charles University in Prague, Faculty of Medicine in Pilsen, from 2019 to 2023. The author focused the main part of her research on rare salivary gland tumors but also participated in studies related to sinonasal soft tissue tumors. The studies used a wide range of investigation methods including morphology, immunohistochemistry, and molecular genetic methods in order to provide new insights for accurate tumor diagnosis and to propose novel approaches and refinements in the classification of selected head and neck tumors. The dissertation is divided into two parts. The first part represents four articles that present the latest data on rare salivary gland tumors. The first paper concentrated on the new rare oncocytic variant of mucoepidermoid carcinoma with comprehensive morphological and immunohistochemical descriptions, and molecular alterations. Special attention was paid to the differential diagnosis with oncocytic tumors for accurate diagnosis. The second study covered a clear cell subtype of myoepithelial carcinoma which showed EWSR gene rearrangements. Different fusions in the PLAG1 gene were found in such tumors but fusion transcripts for the EWSR gene were not detected. The study also focusses on a comparison of the...
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Correlation of Molecular-Genetic and Morphological Markers of Rare Salivary Gland Tumors
Šteiner, Petr ; Skálová, Alena (advisor) ; Laco, Jan (referee) ; Šíma, Radek (referee)
Thesis deals with relationship between histomorphological and molecular-genetic findings of selected salivary gland tumors. Author, as a molecular-cytogeneticist mainly focused on detection of tumor-specific translocations of the salivary gland tumors which can serve as differential diagnostic markers. The thesis is composed as a commented files of authors own publications, and it is divided into four parts. First part deepens the knowledge of salivary adenoid cystic carcinoma. It was proved, that t(6;9)(q22-23;p23-24) resulting in fusion of transcription factors MYB-NFIB, or more rarely t(8;9) resulting in MYBL1-NFIB fusion represent robust differential diagnostic marker of adenoid cystic carcinoma. Further it was proved, that the 1p36 deletion can serve as an unfavorable prognostic indicator of adenoid cystic carcinoma, as the patients with 1p36 deletion had significantly lower survival. Second part summarizes new developments about mammary analogue secretory carcinoma (MASC), which was described by our group as a new salivary tumor entity characterized by translocation t(12;15)(p13;q25) resulting in ETV6-NTRK3 fusion. Another novel observation is a discovery of ETV6-RET fusion in a subset of MASC cases. Further, the first two MASCs of nasal mucosa origin have been described. Third part consists...
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Correlation of Molecular-Genetic and Morphological Markers of Rare Salivary Gland Tumors
Šteiner, Petr ; Skálová, Alena (advisor) ; Laco, Jan (referee) ; Šíma, Radek (referee)
Thesis deals with relationship between histomorphological and molecular-genetic findings of selected salivary gland tumors. Author, as a molecular-cytogeneticist mainly focused on detection of tumor-specific translocations of the salivary gland tumors which can serve as differential diagnostic markers. The thesis is composed as a commented files of authors own publications, and it is divided into four parts. First part deepens the knowledge of salivary adenoid cystic carcinoma. It was proved, that t(6;9)(q22-23;p23-24) resulting in fusion of transcription factors MYB-NFIB, or more rarely t(8;9) resulting in MYBL1-NFIB fusion represent robust differential diagnostic marker of adenoid cystic carcinoma. Further it was proved, that the 1p36 deletion can serve as an unfavorable prognostic indicator of adenoid cystic carcinoma, as the patients with 1p36 deletion had significantly lower survival. Second part summarizes new developments about mammary analogue secretory carcinoma (MASC), which was described by our group as a new salivary tumor entity characterized by translocation t(12;15)(p13;q25) resulting in ETV6-NTRK3 fusion. Another novel observation is a discovery of ETV6-RET fusion in a subset of MASC cases. Further, the first two MASCs of nasal mucosa origin have been described. Third part consists...
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