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8. Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.

Author

Hopfner, Franziska, Tietz, Anja, Ruf, Viktoria, Ross, Owen, Koga, Shunsuke, Dickson, Dennis, Aguzzi, Adriano, Attems, Johannes, Beach, Thomas, Beller, Allison, Cheshire, William, van Deerlin, Vivianna, Deuschl, Günther, Duyckaerts, Charles, Ellinghaus, David, Evsyukov, Valentin, Flanagan, Margaret, Franke, Andre, Frosch, Matthew, Gearing, Marla, Gelpi, Ellen, van Gerpen, Jay, Ghetti, Bernardino, Glass, Jonathan, Halliday, Glenda, Helbig, Ingo, Höllerhage, Matthias, Huitinga, Inge, Irwin, David, Keene, Dirk, Kovacs, Gabor, Lee, Edward, Levin, Johannes, Martí, Maria, Mackenzie, Ian, McKeith, Ian, Mclean, Catriona, Mollenhauer, Brit, Neumann, Manuela, Newell, Kathy, Pantelyat, Alex, Pendziwiat, Manuela, Peters, Annette, Molina Porcel, Laura, Rabano, Alberto, Matěj, Radoslav, Rajput, Alex, Rajput, Ali, Reimann, Regina, Scott, William, Selvackadunco, Sashika, Simuni, Tanya, Stadelmann, Christine, Svenningsson, Per, Thomas, Alan, Trenkwalder, Claudia, Troakes, Claire, Trojanowski, John, Uitti, Ryan, White, Charles, Wszolek, Zbigniew, Xie, Tao, Ximelis, Teresa, Yebenes, Justo, Müller, Ulrich, Schellenberg, Gerard, Herms, Jochen, Kuhlenbäumer, Gregor, Höglinger, Günter, Grinberg, Lea, Seeley, William, and Desplats, Paula

Subjects
ZIC1, ZIC4, autopsy-confirmed, genome-wide association study, multiple system atrophy, Autoantibodies, Autopsy, Genome-Wide Association Study, Humans, Multiple System Atrophy, Nerve Tissue Proteins, Olivopontocerebellar Atrophies, Striatonigral Degeneration, Transcription Factors, alpha-Synuclein
Abstract

BACKGROUND: Multiple System Atrophy is a rare neurodegenerative disease with alpha-synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, and cerebellar ataxia. One prior genome-wide association study in mainly clinically diagnosed patients with Multiple System Atrophy failed to identify genetic variants predisposing for the disease. OBJECTIVE: Since the clinical diagnosis of Multiple System Atrophy yields a high rate of misdiagnosis when compared to the neuropathological gold standard, we studied only autopsy-confirmed cases. METHODS: We studied common genetic variations in Multiple System Atrophy cases (N = 731) and controls (N = 2898). RESULTS: The most strongly disease-associated markers were rs16859966 on chromosome 3, rs7013955 on chromosome 8, and rs116607983 on chromosome 4 with P-values below 5 × 10-6 , all of which were supported by at least one additional genotyped and several imputed single nucleotide polymorphisms. The genes closest to the chromosome 3 locus are ZIC1 and ZIC4 encoding the zinc finger proteins of cerebellum 1 and 4 (ZIC1 and ZIC4). INTERPRETATION: Since mutations of ZIC1 and ZIC4 and paraneoplastic autoantibodies directed against ZIC4 are associated with severe cerebellar dysfunction, we conducted immunohistochemical analyses in brain tissue of the frontal cortex and the cerebellum from 24 Multiple System Atrophy patients. Strong immunohistochemical expression of ZIC4 was detected in a subset of neurons of the dentate nucleus in all healthy controls and in patients with striatonigral degeneration, whereas ZIC4-immunoreactive neurons were significantly reduced inpatients with olivopontocerebellar atrophy. These findings point to a potential ZIC4-mediated vulnerability of neurons in Multiple System Atrophy. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

10. Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas

Author

Stružinská, Ivana, Hájková, Nikola, Hojný, Jan, Krkavcová, Eva, Michálková, Romana, Bui, Quang Hiep, Matěj, Radoslav, Laco, Jan, Drozenová, Jana, Fabian, Pavel, Škapa, Petr, Špůrková, Zuzana, Cibula, David, Frühauf, Filip, Jirásek, Tomáš, Zima, Tomáš, Méhes, Gábor, Kendall Bártů, Michaela, Němejcová, Kristýna, and Dundr, Pavel

Published
2024
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12. A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations

Author

Stružinská, Ivana, Hájková, Nikola, Hojný, Jan, Krkavcová, Eva, Michálková, Romana, Dvořák, Jiří, Němejcová, Kristýna, Matěj, Radoslav, Laco, Jan, Drozenová, Jana, Fabian, Pavel, Hausnerová, Jitka, Méhes, Gábor, Škapa, Petr, Švajdler, Marián, Cibula, David, Frühauf, Filip, Bártů, Michaela Kendall, and Dundr, Pavel

Published
2023
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14. A comprehensive immunohistochemical analysis of IMP2 and IMP3 in 542 cases of ovarian tumors

Author

Němejcová, Kristýna, Bártů, Michaela Kendall, Michálková, Romana, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Hausnerová, Jitka, Laco, Jan, Matěj, Radoslav, Méhes, Gábor, Singh, Naveena, Stolnicu, Simona, Škapa, Petr, Švajdler, Marián, Stružinská, Ivana, Cibula, David, Kocian, Roman, Lax, Sigurd F., McCluggage, W. Glenn, and Dundr, Pavel

Published
2023
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16. Microsatellite instability in non-endometrioid ovarian epithelial tumors: a study of 400 cases comparing immunohistochemistry, PCR, and NGS based testing with mutation status of MMR genes

Author

Hájková, Nikola, Bártů, Michaela Kendall, Cibula, David, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Frühauf, Filip, Hausnerová, Jitka, Hojný, Jan, Krkavcová, Eva, Laco, Jan, Lax, Sigurd F., Matěj, Radoslav, Méhes, Gábor, Michálková, Romana, Němejcová, Kristýna, Singh, Naveena, Stolnicu, Simona, Švajdler, Marián, Zima, Tomáš, McCluggage, Wilson Glenn, Stružinská, Ivana, and Dundr, Pavel

Published
2023
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17. Refined criteria for p53 expression in ovarian mucinous tumours are highly concordant with TP53 mutation status, but p53 expression/TP53 status lack prognostic significance

Author

Dundr, Pavel, Hájková, Nikola, Kendall Bártů, Michaela, Cibula, David, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Frühauf, Filip, Hausnerová, Jitka, Hojný, Jan, Laco, Jan, Lax, Sigurd F., Matěj, Radoslav, Méhes, Gábor, Michálková, Romana, Němejcová, Kristýna, Singh, Naveena, Stolnicu, Simona, Švajdler, Marián, Zima, Tomáš, McCluggage, W. Glenn, and Stružinská, Ivana

Published
2023
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21. Primary Mucinous Tumors of the Ovary: An Interobserver Reproducibility and Detailed Molecular Study Reveals Significant Overlap Between Diagnostic Categories

Author

Dundr, Pavel, Bártů, Michaela, Bosse, Tjalling, Bui, Quang Hiep, Cibula, David, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Hausnerová, Jitka, Hojný, Jan, Hájková, Nikola, Jakša, Radek, Laco, Jan, Lax, Sigurd F., Matěj, Radoslav, Méhes, Gábor, Michálková, Romana, Šafanda, Adam, Němejcová, Kristýna, Singh, Naveena, Stolnicu, Simona, Švajdler, Marián, Zima, Tomáš, Stružinská, Ivana, and McCluggage, W. Glenn

Published
2023
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22. The cytokeratin 17 expression in primary ovarian tumors has diagnostic but not prognostic significance

Author

Dundr, Pavel, Bazalová, Barbora, Bártů, Michaela, Bosse, Tjalling, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Hausnerová, Jitka, Jakša, Radek, Laco, Jan, Lax, Sigurd F., Matěj, Radoslav, McCluggage, W. Glenn, Méhes, Gábor, Michálková, Romana, Němejcová, Kristýna, Singh, Naveena, Stolnicu, Simona, Škapa, Petr, Švajdler, Marián, and Stružinská, Ivana

Published
2022
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25. Lewy body disease or diseases with Lewy bodies?

Author

Menšíková, Kateřina, Matěj, Radoslav, Colosimo, Carlo, Rosales, Raymond, Tučková, Lucie, Ehrmann, Jiří, Hraboš, Dominik, Kolaříková, Kristýna, Vodička, Radek, Vrtěl, Radek, Procházka, Martin, Nevrlý, Martin, Kaiserová, Michaela, Kurčová, Sandra, Otruba, Pavel, and Kaňovský, Petr

Published
2022
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26. Současné standardy molekulárně-patologického testování nádorů centrálního nervového systému.

Author

Kalinová, Markéta, Valterová, Tereza, and Matěj, Radoslav

Abstract

Copyright of Neurologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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27. Analýza genů asociovaných s neurodegenerativními onemocněními: praktické zkušenosti neurodegenerativního centra ve FTN.

Author

Parobková, Eva, Šuhaj, Petr, Šulcová, Hana, and Matěj, Radoslav

Abstract

Copyright of Neurologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024

39. Kanibalové, pomalé viry, Nobelova cena a hošíci: příběh Daniela Carletona Gajduseka (1923-2008), laureáta Nobelovy ceny za medicínu a fyziologii (1976) a doktora honoris causa Univerzity Komenského v Bratislavě (1996)

Author

Kaňovský, Petr, Matěj, Radoslav, Menšíková, Kateřina, Tučková, Lucie, Hraboš, Dominik, and Kurča, Egon

Abstract

Copyright of Neurologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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40. Komorbidní Creutzfeldtova-Jakobova choroba jako diagnostická svízel: kazuistické sdělení kombinace čtyř různých neurodegenerací a pokročilých vaskulárních změn.

Author

Jankovská, Nikol, Waishaupt, Jan, Holada, Karel, and Matěj, Radoslav

Abstract

Copyright of Neurologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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41. Fenokopie Creutzfeldtovy-Jakobovy nemoci.

Author

Menšíková, Kateřina, Matěj, Radoslav, Nijhar, Kruznev Singh, and Kaňovský, Petr

Abstract

Copyright of Neurologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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42. Pokrok v intravitální laboratorní diagnostice prionových onemocnění: vysoce citlivá a specifická detekce prionů v mozkomíšním moku pomocí RT-QuIC.

Author

Holada, Karel, Moško, Tibor, Baranová, Soňa, and Matěj, Radoslav

Abstract

Copyright of Neurologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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43. Lidské prionové nemoci v ČR: 22 let zkušeností Národní referenční laboratoře pro diagnostiku lidských prionových chorob.

Author

Jankovská, Nikol and Matěj, Radoslav

Abstract

Copyright of Neurologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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44. Neuroendocrine Marker Expression in Primary Non-neuroendocrine Epithelial Tumors of the Ovary: A Study of 551 Cases.

Author

Bártů, Michaela Kendall, Němejcová, Kristýna, Michálková, Romana, Quang Hiep Bui, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Hausnerová, Jitka, Laco, Jan, Matěj, Radoslav, Méhes, Gábor, Šafanda, Adam, Singh, Naveena, Škapa, Petr, Špůrková, Zuzana, Stolnicu, Simona, Švajdler, Marián, Lax, Sigurd F., McCluggage, W. Glenn, and Dundr, Pavel

Published
2024
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45. Cerebrospinal fluid and blood serum biomarkers in neurodegenerative proteinopathies: A prospective, open, cross‐correlation study

Author

Koníčková, Dorota, primary, Menšíková, Kateřina, additional, Klíčová, Kateřina, additional, Chudáčková, Monika, additional, Kaiserová, Michaela, additional, Přikrylová, Hana, additional, Otruba, Pavel, additional, Nevrlý, Martin, additional, Hluštík, Petr, additional, Hényková, Eva, additional, Kaleta, Michal, additional, Friedecký, David, additional, Matěj, Radoslav, additional, Strnad, Miroslav, additional, Novák, Ondřej, additional, Plíhalová, Lucie, additional, Rosales, Raymond, additional, Colosimo, Carlo, additional, and Kaňovský, Petr, additional

Published
2023
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46. Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases

Author

Dundr, Pavel, primary, Machado-Lopez, Alba, additional, Mas, Aymara, additional, Věcková, Zuzana, additional, Mára, Michal, additional, Richtárová, Adéla, additional, Matěj, Radoslav, additional, Stružinská, Ivana, additional, Kendall Bártů, Michaela, additional, Němejcová, Kristýna, additional, Dvořák, Jiří, additional, and Hojný, Jan, additional

Published
2023
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47. Neuroendocrine Marker Expression in Primary Non-neuroendocrine Epithelial Tumors of the Ovary: A Study of 551 Cases

Author

Kendall Bártů, Michaela, Němejcová, Kristýna, Michálková, Romana, Bui, Quang Hiep, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Hausnerová, Jitka, Laco, Jan, Matěj, Radoslav, Méhes, Gábor, Šafanda, Adam, Singh, Naveena, Škapa, Petr, Špůrková, Zuzana, Stolnicu, Simona, Švajdler, Marián, Lax, Sigurd F., McCluggage, W. Glenn, and Dundr, Pavel

Abstract

Expression of neuroendocrine (NE) markers in primary ovarian non-NE epithelial tumors has rarely been evaluated. The aim of our study was to evaluate the expression of the most widely used NE markers in these neoplasms and to determine any prognostic significance of NE marker expression. The cohort consisted of 551 primary ovarian tumors, including serous borderline tumors, low-grade serous carcinomas, high-grade serous carcinomas (HGSC), clear cell carcinomas, endometroid carcinomas, mucinous borderline tumors, and mucinous carcinomas. Immunohistochemical analysis was performed using antibodies against INSM1, synaptophysin, chromogranin, and CD56 on tissue microarray. Positivity for INSM1, synaptophysin, chromogranin, and CD56 was most frequently observed in mucinous tumors (48.7%, 26.0%, 41.5%, and 100%, respectively). The positivity for these NE markers was mostly restricted to nonmucinous elements distributed throughout the tumor. The mucinous borderline tumor and mucinous carcinomas groups had similar proportions of positivity (mucinous borderline tumor: 53%, mucinous carcinomas: 39%). In the other tumor types, except for HGSC, there was only focal expression (5%–10%) or negativity for NE markers. HGSC showed high CD56 expression (in 26% of cases). Survival analysis was only performed for CD56 in HGSC as this was the only group with sufficient positive cases, and it showed no prognostic significance. Except for mucinous tumors, expression of NE markers in non-NE ovarian epithelial tumors is low. CD56 expression in HGSC occurs frequently but is without diagnostic or prognostic value.

Published
2024
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49. Additional file 1 of A comprehensive immunohistochemical analysis of 26 markers in 250 cases of serous ovarian tumors

Author

Němejcová, Kristýna, Šafanda, Adam, Bártů, Michaela Kendall, Michálková, Romana, Drozenová, Jana, Fabian, Pavel, Hausnerová, Jitka, Laco, Jan, Matěj, Radoslav, Méhes, Gábor, Škapa, Petr, Stružinská, Ivana, and Dundr, Pavel

Abstract

Additional file 1: TableS1. List of antibodies. TableS2. Overview of optimal cut-offs for the selected markers distinguishingbetween HGSC vs. LGSC and LGSC vs. mSBT. Suitable markers are marked in bold,based on sensitivity and specificity.

Published
2023
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50. Refined criteria for p53 expression in ovarian mucinous tumours are highly concordant with TP53mutation status, but p53 expression/TP53status lack prognostic significance

Author

Dundr, Pavel, Hájková, Nikola, Kendall Bártů, Michaela, Cibula, David, Drozenová, Jana, Fabian, Pavel, Fadare, Oluwole, Frühauf, Filip, Hausnerová, Jitka, Hojný, Jan, Laco, Jan, Lax, Sigurd F., Matěj, Radoslav, Méhes, Gábor, Michálková, Romana, Němejcová, Kristýna, Singh, Naveena, Stolnicu, Simona, Švajdler, Marián, Zima, Tomáš, McCluggage, W. Glenn, and Stružinská, Ivana

Abstract

In gynecological neoplasms, immunohistochemical (IHC) expression of p53 is generally an accurate predictor of TP53mutation status if correctly interpreted by the pathologist. However, the literature concerning cut-offs, frequency and prognostic significance of p53 staining in ovarian mucinous tumours is limited and heterogeneous. We performed an analysis of 123 primary ovarian mucinous tumours including mucinous borderline tumours (MBT), mucinous carcinomas (MC), and tumours with equivocal features between MBT and MC. We assessed p53 expression for the three recognised patterns of aberrant staining in ovarian carcinoma [overexpression (‘all’), null and cytoplasmic] but using a recently suggested cut-off for aberrant overexpression in ovarian mucinous tumours (strong nuclear p53 staining in ≥12 consecutive tumour cells) and correlated the results with next generation sequencing (NGS) in all qualitatively sufficient cases (92/123). Aberrant p53 expression was present in 25/75 (33.3%) MBT, 23/33 (69.7%) MC (75% of MC with expansile invasion and 61.5% with infiltrative invasion), and 10/15 (66.7%) tumours equivocal between MBT and MC. Regarding the 92 tumours with paired IHC and mutation results, 86 showed concordant results and six cases were discordant. Three discordant MBT cases showed aberrant expression but were TP53wild-type on sequencing. Three cases had normal p53 expression but contained a TP53mutation. Overall, IHC predicted the TP53mutation status with high sensitivity (94.1%) and specificity (92.7%). The accuracy of IHC was 93.5% with a positive predictive value of 94.1% and a negative predictive value of 92.7%. When comparing MC cases with wild-type TP53versus those with TP53mutation, there were no significant differences concerning disease-free survival, local recurrence-free survival, or metastases-free survival (p>0.05). In the MBT subgroup, there were no events for survival analyses. In conclusion, using an independent large sample set of ovarian mucinous tumours, the results of our study confirm that the suggested refined cut-off of strong nuclear p53 staining in ≥12 consecutive tumour cells reflect high accuracy, sensitivity and specificity for an underlying TP53mutation but the TP53mutation status has no prognostic significance in either MC or MBT.

Published
2023
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