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248 results on '"Švajdler, Marián"'

8. The Molecular Landscape of 227 Adult Granulosa Cell Tumors of the Ovary: Insights into the Progression from Primary to Recurrence

Author

Michálková, Romana, Šafanda, Adam, Hájková, Nikola, Hojný, Jan, Krkavcová, Eva, Kendall Bártů, Michaela, Švajdler, Marián, Shatokhina, Tetiana, Laco, Jan, Matěj, Radoslav, Méhes, Gábor, Hausnerová, Jitka, Škarda, Jozef, Hácová, Mária, Náležinská, Monika, Zima, Tomáš, Dundr, Pavel, and Němejcová, Kristýna

Published
2025
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9. Molecular and Immunohistochemical Classification of Extrapulmonary Small Cell Neuroendocrine Carcinomas: A Study of 181 Cases

Author

Pavlíčková, Klára, Hojný, Jan, Waldauf, Petr, Švajdler, Marián, Dundr, Pavel, Fabian, Pavel, Krkavcová, Eva, Dvořák, Jiří, Michálková, Romana, Zambo, Iva Staniczková, Hájková, Nikola, Flídrová, Miroslava, Laco, Jan, Hornychová, Helena, Delongová, Patricie, Škarda, Jozef, Hrudka, Jan, and Matěj, Radoslav

Published
2025
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13. 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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14. 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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15. 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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16. 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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17. 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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18. 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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19. Complex immunohistochemical and molecular study on 5 cases of ovarian juvenile granulosa cell tumors reveals a consistent alteration in the PI3K/AKT/mTOR signaling pathway.

Author

Šafanda, Adam, Hájková, Nikola, Kendall Bártů, Michaela, Švajdler, Marián, Matěj, Radoslav, Hausnerová, Jitka, Zima, Tomáš, Dundr, Pavel, and Němejcová, Kristýna

Subjects
GRANULOSA cell tumors, LIFE sciences, NUCLEOTIDE sequencing, YOUNG women, DNA sequencing, CALRETININ
Abstract

Background: Juvenile granulosa cell tumor (JGCT) of the ovary is a rare tumor with distinct clinicopathological and hormonal features primarily affecting young women and children. We conducted a complex clinicopathological, immunohistochemical, and molecular analysis of five cases of JGCT. Methods: The immunohistochemical examination was performed with 32 markers, including markers that have not been previously investigated. Moreover, DNA next-generation sequencing (NGS) and PTEN methylation analysis was performed. Result: We found the expression of calretinin, inhibin A, SF1, FOXL2, CD99, CKAE1/3, ER, PR, AR in all cases. WT1 was expressed in one case. Conversely, the expression of p16, OCT3/4, SALL4, GATA3, Napsin A, SATB2, MUC4, TTF1, and CAIX was completely negative. All tumors showed the wild-type pattern of p53 expression. Regarding predictive markers, all tumors were HER2 negative and did not express PD-L1. Mismatch repair proteins (MMR) showed no loss or restriction of expression, similarly to ARID1A, DPC4, BRG1, and INI1. The molecular analysis revealed AKT1 internal tandem duplication in two tumors. Two other cases exhibited mutations in TERT and EP400 and both developed recurrence. All AKT1-wild type tumors exhibited immunohistochemical loss of PTEN expression. However, no mutations, deletions (as assessed by CNV analysis), or promoter hypermethylation in the PTEN gene were detected. Conclusion: The results of our study further support the hypothesis that the pathogenesis of JGCT may be driven by activation of the PIK3/AKT/mTOR pathway. These findings could potentially have future therapeutic implications, as treatment strategies targeting the PTEN/mTOR pathways are currently under investigation. [ABSTRACT FROM AUTHOR]

Published
2025
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20. EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers

Author

Michal, Michael, Rubin, Brian P., Agaimy, Abbas, Kosemehmetoglu, Kemal, Rudzinski, Erin R., Linos, Konstantinos, John, Ivy, Gatalica, Zoran, Davis, Jessica L., Liu, Yajuan J., McKenney, Jesse K., Billings, Steven D., Švajdler, Marián, Koshyk, Olena, Kinkor, Zdeněk, Michalová, Květoslava, Kalmykova, Antonina V., Yusifli, Zarifa, Ptáková, Nikola, Hájková, Veronika, Grossman, Petr, Šteiner, Petr, and Michal, Michal

Published
2021
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25. Praktická diagnostika nádorov CNS podľa WHO klasifikácie 2021: všeobecné zmeny a diagnostika difúznych gliómov.

Author

Švajdler, Marián, Švajdler, Peter, Koleják, Richard, Přibáň, Vladimír, and Mraček, Jan

Subjects
SPINAL cord tumors, TUMOR classification, MOLECULAR genetics, GLIOMAS, MOLECULAR pathology, CENTRAL nervous system tumors
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. Warthin-like papillary renal cell carcinoma: Clinicopathologic, morphologic, immunohistochemical and molecular genetic analysis of 11 cases

Author

Skenderi, Faruk, Ulamec, Monika, Vanecek, Tomas, Martinek, Petr, Alaghehbandan, Reza, Foix, Maria Pane, Babankova, Iva, Montiel, Delia Perez, Alvarado-Cabrero, Isabel, Svajdler, Marian, Dubinský, Pavol, Cempirkova, Dana, Pavlovsky, Michal, Vranic, Semir, Daum, Ondrej, Ondic, Ondrej, Pivovarcikova, Kristyna, Michalova, Kvetoslava, Hora, Milan, Rotterova, Pavla, Stehlikova, Adela, Dusek, Martin, Michal, Michal, and Hes, Ondrej

Published
2017
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28. Comprehensive clinicopathological, molecular, and methylation analysis of mesenchymal tumors with NTRK and other kinase gene aberrations.

Author

Klubíčková, Natálie, Dermawan, Josephine K, Mosaieby, Elaheh, Martínek, Petr, Vaněček, Tomáš, Hájková, Veronika, Ptáková, Nikola, Grossmann, Petr, Šteiner, Petr, Švajdler, Marián, Kinkor, Zdeněk, Michalová, Květoslava, Szepe, Peter, Plank, Lukáš, Hederová, Stanislava, Kolenová, Alexandra, Spasov, Neofit Juriev, Kosemehmetoglu, Kemal, Pažanin, Leo, and Špůrková, Zuzana

Subjects
METHYLATION, CD34 antigen, CLINICAL pathology, RNA sequencing, DNA sequencing
Abstract

Alterations in kinase genes such as NTRK1/2/3, RET, and BRAF underlie infantile fibrosarcoma (IFS), the emerging entity 'NTRK‐rearranged spindle cell neoplasms' included in the latest WHO classification, and a growing set of tumors with overlapping clinical and pathological features. In this study, we conducted a comprehensive clinicopathological and molecular analysis of 22 cases of IFS and other kinase gene‐altered spindle cell neoplasms affecting both pediatric and adult patients. Follow‐up periods for 16 patients ranged in length from 10 to 130 months (mean 38 months). Six patients were treated with targeted therapy, achieving a partial or complete response in five cases. Overall, three cases recurred and one metastasized. Eight patients were free of disease, five were alive with disease, and two patients died. All cases showed previously reported morphological patterns. Based on the cellularity and level of atypia, cases were divided into three morphological grade groups. S100 protein and CD34 were at least focally positive in 12/22 and 14/22 cases, respectively. Novel PWWP2A::RET, NUMA1::RET, ITSN1::RAF1, and CAPZA2::MET fusions, which we report herein in mesenchymal tumors for the first time, were detected by RNA sequencing. Additionally, the first uterine case with BRAF and EGFR mutations and CD34 and S100 co‐expression is described. DNA sequencing performed in 13 cases uncovered very rare additional genetic aberrations. The CNV profiles showed that high‐grade tumors demonstrate a significantly higher percentage of copy number gains and losses across the genome compared with low‐ and intermediate‐grade tumors. Unsupervised clustering of the tumors' methylation profiles revealed that in 8/9 cases, the methylation profiles clustered with the IFS methylation class, irrespective of their clinicopathological or molecular features. © 2024 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Spindle cell rhabdomyosarcomas: With TFCP2 rearrangements, and novel EWSR1::ZBTB41 and PLOD2::RBM6 gene fusions. A study of five cases and review of the literature.

Author

Bradová, Martina, Mosaieby, Elaheh, Michal, Michael, Vaněček, Tomáš, Ing, Stanislav Kormunda, Grossmann, Petr, Koshyk, Olena, Kinkor, Zdeněk, Laciok, Šimon, Nemcová, Antónia, Straka, Ľubomír, Farkas, Mihaela, Michal, Michal, and Švajdler, Marián

Subjects
GENE fusion, FLUORESCENCE in situ hybridization, YOUNG adults, OVERALL survival
Abstract

Aims: Spindle‐cell/sclerosing rhabdomyosarcomas (SS‐RMS) are clinically and genetically heterogeneous. They include three well‐defined molecular subtypes, of which those with EWSR1/FUS::TFCP2 rearrangements were described only recently. This study aimed to evaluate five new cases of SS‐RMS and to perform a clinicopathological and statistical analysis of all TFCP2‐rearranged SS‐RMS described in the English literature to more comprehensively characterize this rare tumour type. Methods and Results: Cases were retrospectively selected and studied by immunohistochemistry, fluorescence in situ hybridization with EWSR1/FUS and TFCP2 break‐apart probes, next‐generation sequencing (Archer FusionPlex Sarcoma kit and TruSight RNA Pan‐Cancer Panel). The PubMed database was searched for relevant peer‐reviewed English reports. Five cases of SS‐RMS were found. Three cases were TFCP2 rearranged SS‐RMS, having FUSex6::TFCP2ex2 gene fusion in two cases and triple gene fusion EWSR1ex5::TFCP2ex2, VAX2ex2::ALKex2 and VAX2intron2::ALKex2 in one case. Two cases showed rhabdomyoblastic differentiation and spindle‐round cell/sclerosing morphology, but were characterized by novel genetic fusions including EWSR1ex8::ZBTB41ex7 and PLOD2ex8::RBM6ex7, respectively. In the statistical analysis of all published cases, CDKN2A or ALK alterations, the use of standard chemotherapy and age at presentation in the range of 18–24 years were negatively correlated to overall survival. Conclusion: EWSR1/FUS::TFCP2‐rearranged SS‐RMS is a rare rhabdomyosarcoma subtype, affecting predominantly young adults with average age at presentation 34 years (median 29.5 years; age range 7–86 years), with a predilection for craniofacial bones, rapid clinical course with frequent bone and lung metastases, and poor prognosis (3‐year overall survival rate 28%). [ABSTRACT FROM AUTHOR]

Published
2024
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31. Poorly differentiated extra-axial extraskeletal chordoma diagnosed by methylation profiling: case report and analysis of brachyury expression in SWI/SNF-deficient tumors

Author

Klubíčková, Natálie, primary, Michal, Michael, additional, Kinkor, Zdeněk, additional, Soukup, Jiří, additional, Ryška, Aleš, additional, Brtková, Jindra, additional, Lutonský, Martin, additional, Hájková, Veronika, additional, Ptáková, Nikola, additional, Michal, Michal, additional, Farkas, Mihaela, additional, and Švajdler, Marián, additional

Published
2023
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32. Correction to: EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers

Author

Michal, Michael, Rubin, Brian P., Agaimy, Abbas, Kosemehmetoglu, Kemal, Rudzinski, Erin R., Linos, Konstantinos, John, Ivy, Gatalica, Zoran, Davis, Jessica L., Liu, Yajuan J., McKenney, Jesse K., Billings, Steven D., Švajdler, Marián, Koshyk, Olena, Kinkor, Zdeněk, Michalová, Květoslava, Kalmykova, Antonina V., Yusifli, Zarifa, Ptáková, Nikola, Hájková, Veronika, Grossman, Petr, Šteiner, Petr, and Michal, Michal

Published
2021
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34. 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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37. 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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39. Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions

Author

Lenz, Jiří, primary, Klubíčková, Natálie, additional, Ptáková, Nikola, additional, Hájková, Veronika, additional, Grossmann, Petr, additional, Šteiner, Petr, additional, Kinkor, Zdeněk, additional, Švajdler, Marián, additional, Michal, Michal, additional, Konečná, Petra, additional, Macháčová, Dominika, additional, Hurník, Pavel, additional, Tichý, Michal, additional, Tichý, František, additional, Kyllar, Michal, additional, Fiala, Luděk, additional, Kavka, Miroslav, additional, and Michal, Michael, additional

Published
2022
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44. 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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50. Molecular testing in endometrial carcinoma – joint recommendation of Czech Oncological Society, Oncogynecological Section of the Czech Gynecological and Obstetrical Society, Society of Radiation Oncology, Biology and Physics, and the Society of Czech Pathologists

Author

Dundr, Pavel, primary, Cibula, David, additional, Doležel, Martin, additional, Fabián, Pavel, additional, Fínek, Jindřich, additional, Jirásek, Tomáš, additional, Matěj, Radoslav, additional, Petruželka, Luboš, additional, Rob, Lukáš, additional, Ryška, Aleš, additional, Švajdler, Marián, additional, Weinberger, Vít, additional, and Zikán, Michal, additional

Published
2021
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