Search

Your search keyword '"Zamecnik, Josef"' showing total 389 results
Start Over Author "Zamecnik, Josef"
389 results on '"Zamecnik, Josef"'

1. Diffuse pediatric high-grade glioma of methylation-based RTK2A and RTK2B subclasses present distinct radiological and histomolecular features including Gliomatosis cerebri phenotype

Author

Tauziède-Espariat, Arnault, Friker, Lea L., Nussbaumer, Gunther, Bison, Brigitte, Dangouloff-Ros, Volodia, Métais, Alice, Sumerauer, David, Zamecnik, Josef, Benesch, Martin, Perwein, Thomas, van Vuurden, Dannis, Wesseling, Pieter, La Madrid, Andrés Morales, Garrè, Maria Luisa, Antonelli, Manila, Giangaspero, Felice, Pietsch, Torsten, Sturm, Dominik, Jones, David T. W., Pfister, Stefan M., Grabovska, Yura, Mackay, Alan, Jones, Chris, Grill, Jacques, Ajlil, Yassine, von Bueren, André O., Karremann, Michael, Hoffmann, Marion, Kramm, Christof M., Kwiecien, Robert, Castel, David, Gielen, Gerrit H., and Varlet, Pascale

Published
2024
Full Text
View/download PDF

2. Clinical and molecular study of radiation-induced gliomas

Author

Trkova, Katerina, Sumerauer, David, Bubenikova, Adela, Krskova, Lenka, Vicha, Ales, Koblizek, Miroslav, Zamecnik, Josef, Jurasek, Bruno, Kyncl, Martin, Malinova, Bela, Ondrova, Barbora, Jones, David T. W., Sill, Martin, Strnadova, Martina, Stolova, Lucie, Misove, Adela, Benes, III, Vladimir, and Zapotocky, Michal

Published
2024
Full Text
View/download PDF

3. Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification

Author

Keck, Michaela-Kristina, Sill, Martin, Wittmann, Andrea, Joshi, Piyush, Stichel, Damian, Beck, Pengbo, Okonechnikow, Konstantin, Sievers, Philipp, Wefers, Annika K, Roncaroli, Federico, Avula, Shivaram, McCabe, Martin G, Hayden, James T, Wesseling, Pieter, Øra, Ingrid, Nistér, Monica, Kranendonk, Mariëtte EG, Tops, Bastiaan BJ, Zapotocky, Michal, Zamecnik, Josef, Vasiljevic, Alexandre, Fenouil, Tanguy, Meyronet, David, von Hoff, Katja, Schüller, Ulrich, Loiseau, Hugues, Figarella-Branger, Dominique, Kramm, Christof M, Sturm, Dominik, Scheie, David, Rauramaa, Tuomas, Pesola, Jouni, Gojo, Johannes, Haberler, Christine, Brandner, Sebastian, Jacques, Tom, Sexton Oates, Alexandra, Saffery, Richard, Koscielniak, Ewa, Baker, Suzanne J, Yip, Stephen, Snuderl, Matija, Ud Din, Nasir, Samuel, David, Schramm, Kathrin, Blattner-Johnson, Mirjam, Selt, Florian, Ecker, Jonas, Milde, Till, von Deimling, Andreas, Korshunov, Andrey, Perry, Arie, Pfister, Stefan M, Sahm, Felix, Solomon, David A, and Jones, David TW

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Pediatric, Genetics, Rare Diseases, Pediatric Cancer, Cancer, Pediatric Research Initiative, Neurosciences, Brain Cancer, Brain Disorders, Child, Child, Preschool, Female, Humans, Infant, Male, Cell Cycle Proteins, Central Nervous System Neoplasms, DNA Methylation, DNA-Binding Proteins, Neuroectodermal Tumors, Primitive, RNA-Binding Proteins, Transcription Factors, Tumor Suppressor Proteins, Wnt Signaling Pathway, PLAGL1, PLAGL2, Molecular neuro-oncology, Pediatric cancer, Clinical Sciences, Neurology & Neurosurgery
Abstract

Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal high-level amplification and resultant overexpression of either PLAGL1 or PLAGL2, and an absence of recurrent genetic alterations characteristic of other pediatric CNS tumor types. Both genes act as transcription factors for a regulatory subset of imprinted genes (IGs), components of the Wnt/β-Catenin pathway, and the potential drug targets RET and CYP2W1, which are also specifically overexpressed in this tumor type. A derived PLAGL-specific gene expression signature indicates dysregulation of imprinting control and differentiation/development. These tumors occurred throughout the neuroaxis including the cerebral hemispheres, cerebellum, and brainstem, and were predominantly composed of primitive embryonal-like cells lacking robust expression of markers of glial or neuronal differentiation (e.g., GFAP, OLIG2, and synaptophysin). Tumors with PLAGL1 amplification were typically diagnosed during adolescence (median age 10.5 years), whereas those with PLAGL2 amplification were diagnosed during early childhood (median age 2 years). The 10-year overall survival was 66% for PLAGL1-amplified tumors, 25% for PLAGL2-amplified tumors, 18% for male patients, and 82% for female patients. In summary, we describe a new type of biologically distinct CNS tumor characterized by PLAGL1/2 amplification that occurs predominantly in infants and toddlers (PLAGL2) or adolescents (PLAGL1) which we consider best classified as a CNS embryonal tumor and which is associated with intermediate survival. The cell of origin and optimal treatment strategies remain to be defined.

Published
2023

4. Correction to: Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification

Author

Keck, Michaela-Kristina, Sill, Martin, Wittmann, Andrea, Joshi, Piyush, Stichel, Damian, Beck, Pengbo, Okonechnikow, Konstantin, Sievers, Philipp, Wefers, Annika K., Roncaroli, Federico, Avula, Shivaram, McCabe, Martin G., Hayden, James T., Wesseling, Pieter, Øra, Ingrid, Nistér, Monica, Kranendonk, Mariëtte E. G., Tops, Bastiaan B. J., Zapotocky, Michal, Zamecnik, Josef, Vasiljevic, Alexandre, Fenouil, Tanguy, Meyronet, David, von Hoff, Katja, Schüller, Ulrich, Loiseau, Hugues, Figarella-Branger, Dominique, Kramm, Christof M., Sturm, Dominik, Scheie, David, Rauramaa, Tuomas, Pesola, Jouni, Gojo, Johannes, Haberler, Christine, Brandner, Sebastian, Jacques, Tom, Sexton Oates, Alexandra, Saffery, Richard, Koscielniak, Ewa, Baker, Suzanne J., Yip, Stephen, Snuderl, Matija, Ud Din, Nasir, Samuel, David, Schramm, Kathrin, Blattner-Johnson, Mirjam, Selt, Florian, Ecker, Jonas, Milde, Till, von Deimling, Andreas, Korshunov, Andrey, Perry, Arie, Pfister, Stefan M., Sahm, Felix, Solomon, David A., and Jones, David T. W.

Published
2023
Full Text
View/download PDF

5. Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

Author

Huschner, Franz, Głowacka-Walas, Jagoda, Mills, James D., Klonowska, Katarzyna, Lasseter, Kathryn, Asara, John M., Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Petrák, Bořivoj, van Scheppingen, Jackelien, Zamecnik, Josef, Iyer, Anand, Anink, Jasper J., Mühlebner, Angelika, Mijnsbergen, Caroline, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Blazejczyk, Magdalena, Jansen, Floor E., Janson, Stef, Urbanska, Malgorzata, Tempes, Aleksandra, Janssen, Bart, Sijko, Kamil, Wojdan, Konrad, Jozwiak, Sergiusz, Kotulska, Katarzyna, Lehmann, Karola, Aronica, Eleonora, Jaworski, Jacek, and Kwiatkowski, David J.

Published
2023
Full Text
View/download PDF

7. Genetic testing in children enrolled in epilepsy surgery program. A real-life study

Author

Straka, Barbora, Splitkova, Barbora, Vlckova, Marketa, Tesner, Pavel, Rezacova, Hana, Krskova, Lenka, Koblizek, Miroslav, Kyncl, Martin, Maulisova, Alice, Bukacova, Katerina, Uhrova-Meszarosova, Anna, Musilova, Alena, Kudr, Martin, Ebel, Matyas, Belohlavkova, Anezka, Jahodova, Alena, Liby, Petr, Tichy, Michal, Jezdik, Petr, Zamecnik, Josef, Aronica, Eleonora, and Krsek, Pavel

Published
2023
Full Text
View/download PDF

8. Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma

Author

Nobre, Liana, Zapotocky, Michal, Khan, Sara, Fukuoka, Kohei, Fonseca, Adriana, McKeown, Tara, Sumerauer, David, Vicha, Ales, Grajkowska, Wieslawa A, Trubicka, Joanna, Li, Kay Ka Wai, Ng, Ho-Keung, Massimi, Luca, Lee, Ji Yeoun, Kim, Seung-Ki, Zelcer, Shayna, Vasiljevic, Alexandre, Faure-Conter, Cécile, Hauser, Peter, Lach, Boleslaw, van Veelen-Vincent, Marie-Lise, French, Pim J, Van Meir, Erwin G, Weiss, William A, Gupta, Nalin, Pollack, Ian F, Hamilton, Ronald L, Rao, Amulya A Nageswara, Giannini, Caterina, Rubin, Joshua B, Moore, Andrew S, Chambless, Lola B, Vibhakar, Rajeev, Ra, Young Shin, Massimino, Maura, McLendon, Roger E, Wheeler, Helen, Zollo, Massimo, Ferruci, Veronica, Kumabe, Toshihiro, Faria, Claudia C, Sterba, Jaroslav, Jung, Shin, López-Aguilar, Enrique, Mora, Jaume, Carlotti, Carlos G, Olson, James M, Leary, Sarah, Cain, Jason, Krskova, Lenka, Zamecnik, Josef, Hawkins, Cynthia E, Tabori, Uri, Huang, Annie, Bartels, Ute, Northcott, Paul A, Taylor, Michael D, Yip, Stephen, Hansford, Jordan R, Bouffet, Eric, and Ramaswamy, Vijay

Subjects
Cancer, Clinical Research, Evaluation of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Antineoplastic Combined Chemotherapy Protocols, Biomarkers, Tumor, Cerebellar Neoplasms, Child, Cyclophosphamide, Female, Humans, Ifosfamide, Male, Medulloblastoma, Middle Aged, Neoplasm Recurrence, Local, Progression-Free Survival, medulloblastoma, WNT, genomics, cyclophosphamide, chemotherapy, prognosis, survival
Abstract

Over the past decade, wingless-activated (WNT) medulloblastoma has been identified as a candidate for therapy de-escalation based on excellent survival; however, a paucity of relapses has precluded additional analyses of markers of relapse. To address this gap in knowledge, an international cohort of 93 molecularly confirmed WNT MB was assembled, where 5-year progression-free survival is 0.84 (95%, 0.763-0.925) with 15 relapsed individuals identified. Maintenance chemotherapy is identified as a strong predictor of relapse, with individuals receiving high doses of cyclophosphamide or ifosphamide having only one very late molecularly confirmed relapse (p = 0.032). The anatomical location of recurrence is metastatic in 12 of 15 relapses, with 8 of 12 metastatic relapses in the lateral ventricles. Maintenance chemotherapy, specifically cumulative cyclophosphamide doses, is a significant predictor of relapse across WNT MB. Future efforts to de-escalate therapy need to carefully consider not only the radiation dose but also the chemotherapy regimen and the propensity for metastatic relapses.

Published
2020

9. Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas

Author

Misove Adela, Vicha Ales, Broz Petr, Vanova Katerina, Sumerauer David, Stolova Lucie, Sramkova Lucie, Koblizek Miroslav, Zamecnik Josef, Kyncl Martin, Holubova Zuzana, Liby Petr, Taborsky Jakub, Benes Vladimir, Pernikova Ivana, Jones T. W. David, Sill Martin, Stancokova Terezia, Krskova Lenka, and Zapotocky Michal

Subjects
Spinal cord, Low-grade glioma, KIAA1549:BRAF fusion, NTRK fusion, Methylation profiling, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Gliomas are the most common central nervous tumors in children and adolescents. However, spinal cord low-grade gliomas (sLGGs) are rare, with scarce information on tumor genomics and epigenomics. To define the molecular landscape of sLGGs, we integrated clinical data, histology, and multi-level genetic and epigenetic analyses on a consecutive cohort of 26 pediatric patients. Driver molecular alteration was found in 92% of patients (24/26). A novel variant of KIAA1549:BRAF fusion (ex10:ex9) was identified using RNA-seq in four cases. Importantly, only one-third of oncogenic drivers could be revealed using standard diagnostic methods, and two-thirds of pediatric patients with sLGGs required extensive molecular examination. The majority (23/24) of detected alterations were potentially druggable targets. Four patients in our cohort received targeted therapy with MEK or NTRK inhibitors. Three of those exhibited clinical improvement (two with trametinib, one with larotrectinib), and two patients achieved partial response. Methylation profiling was implemented to further refine the diagnosis and revealed intertumoral heterogeneity in sLGGs. Although 55% of tumors clustered with pilocytic astrocytoma, other rare entities were identified in this patient population. In particular, diffuse leptomeningeal glioneuronal tumors (n = 3) and high-grade astrocytoma with piloid features (n = 1) and pleomorphic xanthoastrocytoma (n = 1) were present. A proportion of tumors (14%) had no match with the current version of the classifier. Complex molecular genetic sLGGs characterization was invaluable to refine diagnosis, which has proven to be essential in such a rare tumor entity. Moreover, identifying a high proportion of drugable targets in sLGGs opened an opportunity for new treatment modalities.

Published
2022
Full Text
View/download PDF

10. Correction to: Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas

Author

Misove, Adela, Vicha, Ales, Broz, Petr, Vanova, Katerina, Sumerauer, David, Stolova, Lucie, Sramkova, Lucie, Koblizek, Miroslav, Zamecnik, Josef, Kyncl, Martin, Holubova, Zuzana, Liby, Petr, Taborsky, Jakub, Benes, III, Vladimir, Pernikova, Ivana, Jones, David T. W., Sill, Martin, Stancokova, Terezia, Krskova, Lenka, and Zapotocky, Michal

Published
2022
Full Text
View/download PDF

11. Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Author

Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., and Aronica, Eleonora

Published
2022
Full Text
View/download PDF

12. Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

Author

Korotkov, Anatoly, Luinenburg, Mark J., Romagnolo, Alessia, Zimmer, Till S., van Scheppingen, Jackelien, Bongaarts, Anika, Broekaart, Diede W. M., Anink, Jasper J., Mijnsbergen, Caroline, Jansen, Floor E., van Hecke, Wim, Spliet, Wim G., van Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, van Vliet, Erwin A., Mills, James D., and Aronica, Eleonora

Published
2022
Full Text
View/download PDF

13. Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile

Author

Nussbaumer, Gunther, primary, Benesch, Martin, additional, Grabovska, Yura, additional, Mackay, Alan, additional, Castel, David, additional, Grill, Jacques, additional, Alonso, Marta M, additional, Antonelli, Manila, additional, Bailey, Simon, additional, Baugh, Joshua N, additional, Biassoni, Veronica, additional, Blattner Johnson, Mirjam, additional, Broniscer, Alberto, additional, Carai, Andrea, additional, Colafati, Giovanna Stefania, additional, Colditz, Niclas, additional, Corbacioglu, Selim, additional, Crampsie, Shauna, additional, Entz-Werle, Natacha, additional, Eyrich, Matthias, additional, Friker, Lea L, additional, Frühwald, Michael C, additional, Garrè, Maria Luisa, additional, Gerber, Nicolas U, additional, Giangaspero, Felice, additional, Gil-da-Costa, Maria J, additional, Graf, Norbert, additional, Hargrave, Darren, additional, Hauser, Peter, additional, Herrlinger, Ulrich, additional, Hoffmann, Marion, additional, Hulleman, Esther, additional, Izquierdo, Elisa, additional, Jacobs, Sandra, additional, Karremann, Michael, additional, Kattamis, Antonis, additional, Kebudi, Rejin, additional, Kortmann, Rolf-Dieter, additional, Kwiecien, Robert, additional, Massimino, Maura, additional, Mastronuzzi, Angela, additional, Miele, Evelina, additional, Morana, Giovanni, additional, Noack, Claudia M, additional, Pentikainen, Virve, additional, Perwein, Thomas, additional, Pfister, Stefan M, additional, Pietsch, Torsten, additional, Roka, Kleoniki, additional, Rossi, Sabrina, additional, Rutkowski, Stefan, additional, Schiavello, Elisabetta, additional, Seidel, Clemens, additional, Štěrba, Jaroslav, additional, Sturm, Dominik, additional, Sumerauer, David, additional, Tacke, Anna, additional, Temelso, Sara, additional, Valentini, Chiara, additional, van Vuurden, Dannis, additional, Varlet, Pascale, additional, Veldhuijzen van Zanten, Sophie E M, additional, Vinci, Maria, additional, von Bueren, André O, additional, Warmuth-Metz, Monika, additional, Wesseling, Pieter, additional, Wiese, Maria, additional, Wolff, Johannes E A, additional, Zamecnik, Josef, additional, Morales La Madrid, Andrés, additional, Bison, Brigitte, additional, Gielen, Gerrit H, additional, Jones, David T W, additional, Jones, Chris, additional, and Kramm, Christof M, additional

Published
2024
Full Text
View/download PDF

16. Gliomatosis cerebri in children:A poor prognostic phenotype of diffuse gliomas with a distinct molecul profile

Author

Nussbaumer, Gunther, Benesch, Martin, Grabovska, Yura, Mackay, Alan, Castel, David, Grill, Jacques, Alonso, Marta M., Antonelli, Manila, Bailey, Simon, Baugh, Joshua N., Biassoni, Veronica, Blattner-Johnson, Mirjam, Broniscer, Alberto, Carai, Andrea, Colafati, Giovanna Stefania, Colditz, Niclas, Corbacioglu, Selim, Crampsie, Shauna, Entz-Werle, Natacha, Eyrich, Matthias, Friker, Lea L., Frühwald, Michael C., Garrè, Maria Luisa, Gerber, Nicolas U., Giangaspero, Felice, Gil-Da-Costa, Maria J., Graf, Norbert, Hargrave, Darren, Hauser, Peter, Herrlinger, Ulrich, Hoffmann, Marion, Hulleman, Esther, Izquierdo, Elisa, Jacobs, Sandra, Karremann, Michael, Kattamis, Antonis, Kebudi, Rejin, Kortmann, Rolf Dieter, Kwiecien, Robert, Massimino, Maura, Mastronuzzi, Angela, Miele, Evelina, Morana, Giovanni, Noack, Claudia M., Pentikainen, Virve, Perwein, Thomas, Pfister, Stefan M., Pietsch, Torsten, Roka, Kleoniki, Rossi, Sabrina, Rutkowski, Stefan, Schiavello, Elisabetta, Seidel, Clemens, Štěrba, Jaroslav, Sturm, Dominik, Sumerauer, David, Tacke, Anna, Temelso, Sara, Valentini, Chiara, van Vuurden, Dannis, Varlet, Pascale, Veldhuijzen van Zanten, Sophie E.M., Vinci, Maria, von Bueren, André O., Warmuth-Metz, Monika, Wesseling, Pieter, Wiese, Maria, Wolff, Johannes E.A., Zamecnik, Josef, La Madrid, Andrés Morales, Bison, Brigitte, Gielen, Gerrit H., Jones, David T.W., Jones, Chris, Kramm, Christof M., Nussbaumer, Gunther, Benesch, Martin, Grabovska, Yura, Mackay, Alan, Castel, David, Grill, Jacques, Alonso, Marta M., Antonelli, Manila, Bailey, Simon, Baugh, Joshua N., Biassoni, Veronica, Blattner-Johnson, Mirjam, Broniscer, Alberto, Carai, Andrea, Colafati, Giovanna Stefania, Colditz, Niclas, Corbacioglu, Selim, Crampsie, Shauna, Entz-Werle, Natacha, Eyrich, Matthias, Friker, Lea L., Frühwald, Michael C., Garrè, Maria Luisa, Gerber, Nicolas U., Giangaspero, Felice, Gil-Da-Costa, Maria J., Graf, Norbert, Hargrave, Darren, Hauser, Peter, Herrlinger, Ulrich, Hoffmann, Marion, Hulleman, Esther, Izquierdo, Elisa, Jacobs, Sandra, Karremann, Michael, Kattamis, Antonis, Kebudi, Rejin, Kortmann, Rolf Dieter, Kwiecien, Robert, Massimino, Maura, Mastronuzzi, Angela, Miele, Evelina, Morana, Giovanni, Noack, Claudia M., Pentikainen, Virve, Perwein, Thomas, Pfister, Stefan M., Pietsch, Torsten, Roka, Kleoniki, Rossi, Sabrina, Rutkowski, Stefan, Schiavello, Elisabetta, Seidel, Clemens, Štěrba, Jaroslav, Sturm, Dominik, Sumerauer, David, Tacke, Anna, Temelso, Sara, Valentini, Chiara, van Vuurden, Dannis, Varlet, Pascale, Veldhuijzen van Zanten, Sophie E.M., Vinci, Maria, von Bueren, André O., Warmuth-Metz, Monika, Wesseling, Pieter, Wiese, Maria, Wolff, Johannes E.A., Zamecnik, Josef, La Madrid, Andrés Morales, Bison, Brigitte, Gielen, Gerrit H., Jones, David T.W., Jones, Chris, and Kramm, Christof M.

Abstract

Background: The term gliomatosis cerebri (GC), a radiology-defined highly infiltrating diffuse glioma, has been abandoned since molecular GC-associated features could not be established. Methods: We conducted a multinational retrospective study of 104 children and adolescents with GC providing comprehensive clinical and (epi-)genetic characterization. Results: Median overall survival (OS) was 15.5 months (interquartile range, 10.9–27.7) with a 2-year survival rate of 28%. Histopathological grading correlated significantly with median OS: CNS WHO grade II: 47.8 months (25.2–55.7); grade III: 15.9 months (11.4–26.3); grade IV: 10.4 months (8.8–14.4). By DNA methylation profiling (n = 49), most tumors were classified as pediatric-type diffuse high-grade glioma (pedHGG), H3-/IDH-wild-type (n = 31/49, 63.3%) with enriched subclasses pedHGG_RTK2 (n = 19), pedHGG_A/B (n = 6), and pedHGG_MYCN (n = 5), but only one pedHGG_RTK1 case. Within the pedHGG, H3-/IDH-wild-type subgroup, recurrent alterations in EGFR (n = 10) and BCOR (n = 9) were identified. Additionally, we observed structural aberrations in chromosome 6 in 16/49 tumors (32.7%) across tumor types. In the pedHGG, H3-/IDH-wild-type subgroup TP53 alterations had a significant negative effect on OS. Conclusions: Contrary to previous studies, our representative pediatric GC study provides evidence that GC has a strong predilection to arise on the background of specific molecular features (especially pedHGG_ RTK2, pedHGG_A/B, EGFR and BCOR mutations, chromosome 6 rearrangements).

Published
2024

18. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

Author

Aichholzer, Martin, Amorim, Isabel, Aparicio, Javier, Aronica, Eleonora, Arzimanoglou, Alexis, Barba, Carmen, Beck, Jürgen, Becker, Albert, Beckervordersandforth, Jan C, Bien, Christian G, Blümcke, Ingmar, Bodi, Istvan, Braun, Kees PJ, Catenoix, Helene, Chassoux, Francine, Chipaux, Mathilde, Cloppenborg, Thomas, Coras, Roland, Cross, J Helen, De Palma, Luca, De Tisi, Jane, Deleo, Francesco, Devaux, Bertrand, Di Gennaro, Giancarlo, Dorfmüller, Georg, Duncan, John S, Elger, Christian, Ernst, Katharina, Esposito, Vincenzo, Feucht, Martha, Gadze, Zeljka Petelin, Garbelli, Rita, Geleijns, Karin, Gil-Nagel, Antonio, Grote, Alexander, Grunwald, Thomas, Guerrini, Renzo, Hamer, Hajo, Honavar, Mrinalini, Jacques, Thomas S, Jakovcevic, Antonia, Jutila, Leena, Kalina, Adam, Kälviäinen, Reetta, Klein, Karl Martin, Koenig, Kristina, Krsek, Pavel, Kudernatsch, Manfred, Kudr, Martin, Lamberink, Herm J, Malmgren, Kristina, Marusic, Petr, Melikyan, Armen, Menzler, Katja, Noachtar, Soheyl, Otte, Willem M, Özkara, Çiğdem, Pieper, Tom, Pimentel, Jose, Raicevic, Savo, Rheims, Sylvain, Ribeiro, Joana, Rosenow, Felix, Rössler, Karl, Rydenhag, Bertil, Sales, Francisco, San Antonio-Arce, Victoria, Schaller, Karl Lothar, Schijns, Olaf, Scholl, Theresa, Schramm, Johannes, Schulze-Bonhage, Andreas, Sciot, Raf, Seeck, Margitta, Shishkina, Lyudmila, Sokic, Dragoslav, Specchio, Nicola, Theys, Tom, Thom, Maria, Delgado, Rafael Toledano, Toulouse, Joseph, Uzan, Mustafa, van Loon, Johannes, Van Paesschen, Wim, von Oertzen, Tim J, Jansen, Floor, Leijten, Frans, van Rijen, Peter, Spliet, Wim GM, Mühlebner, Angelika, Kasper, Burkhard S, Fauser, Susanne, Polster, Tilman, Kalbhenn, Thilo, Delev, Daniel, McEvoy, Andrew, Miserocchi, Anna, Landré, Elisabeth, Turak, Bares, Varlet, Pascale, Ferrand-Sorbets, Sarah, Fohlen, Martine, Bulteau, Christine, Edelvik, Anna, Shah, Mukesch J, Scheiwe, Christian, Delicado, Eva Gutierrez, Tisdall, Martin, Eltze, Christin, Akkol, Serdar, Deniz, Kaancan, Oz, Buge, Holthausen, Hans, Hartlieb, Till, Staudt, Martin, Casciato, Sara, Quarato, Pier P, Giangaspero, Felice, Streichenberger, Nathalie, Guenot, Marc, Isnard, Jean, Valentijn, Antonio, Chang, Amanda, Mullatti, Nandini, Zamecnik, Josef, Zarubova, Jana, Tomasek, Martin, Immonen, Arto, Saarela, Anni, Rauramaa, Tuomas, Lobrinus, Johannes A, Egervari, Kristof, Momjian, Shahan, Harti, Elisabeth, Lohr, Hannah, Kroell, Judith, Vermeulen, Lynn, Cleeren, Evy, Vlasov, Pavel, Kozlova, Antonia, Vorobyev, Alexey, Goeppel, Gudrun, Samueli, Sharon, Czech, Thomas, Hainfellner, Johannes, Puttinger, Gertraud, Schwarz, Gabriele, Stefanits, Harald, Weis, Serge, Spreafico, Roberto, Villani, Flavio, Rossini, Laura, Hermsen, Anke, Knake, Susanne, Nimsky, Christopher, Carl, Barbara, Belohlavkova, Anezka, Benova, Barbora, Bisschop, Jeroen, Colon, Albert, van Kranen-Mastenbroek, Vivianne, Rouhl, Rob PW, Hoogland, Govert, Rumiá, Jordi, Ramírez-Camacho, Alia, Candela-Cantó, Santiago, Ostrowsky-Coste, Karine, Panagiotakaki, Eleni, Montavont, Alexandra, Kosal, Pascale Keo, Gokce-Samar, Zeynep, Milleret, Clara, Buccoliero, Anna M, Giordano, Flavio, Sulentic, Vlatko, Mrak, Goran, Desnica, Andrej, CarfíPavia, Giusy, De Benedictis, Alessandro, Marras, Carlo E, Bascarevic, Vladimir, Vojvodic, Nikola, Ristic, Aleksandar, Rebelo, Olinda, Aledo-Serrano, Angel, Garcia-Morales, Irene, Anciones, Carla, and Braun, Kees P J

Published
2020
Full Text
View/download PDF

21. Radiation-induced gliomas represent H3-/IDH-wild type pediatric gliomas with recurrent PDGFRA amplification and loss of CDKN2A/B

Author

Deng, Maximilian Y., Sturm, Dominik, Pfaff, Elke, Sill, Martin, Stichel, Damian, Balasubramanian, Gnana Prakash, Tippelt, Stephan, Kramm, Christof, Donson, Andrew M., Green, Adam L., Jones, Chris, Schittenhelm, Jens, Ebinger, Martin, Schuhmann, Martin U., Jones, Barbara C., van Tilburg, Cornelis M., Wittmann, Andrea, Golanov, Andrey, Ryzhova, Marina, Ecker, Jonas, Milde, Till, Witt, Olaf, Sahm, Felix, Reuss, David, Sumerauer, David, Zamecnik, Josef, Korshunov, Andrey, von Deimling, Andreas, Pfister, Stefan M., and Jones, David T. W.

Published
2021
Full Text
View/download PDF

30. Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

Author

Pathologie Pathologen staf, Brain, Cancer, Pathologie Groep Van Diest, Neurologen, Pathologie, Huschner, Franz, Głowacka-Walas, Jagoda, Mills, James D, Klonowska, Katarzyna, Lasseter, Kathryn, Asara, John M, Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C, Petrák, Bořivoj, van Scheppingen, Jackelien, Zamecnik, Josef, Iyer, Anand, Anink, Jasper J, Mühlebner, Angelika, Mijnsbergen, Caroline, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Blazejczyk, Magdalena, Jansen, Floor E, Janson, Stef, Urbanska, Malgorzata, Tempes, Aleksandra, Janssen, Bart, Sijko, Kamil, Wojdan, Konrad, Jozwiak, Sergiusz, Kotulska, Katarzyna, Lehmann, Karola, Aronica, Eleonora, Jaworski, Jacek, Kwiatkowski, David J, Pathologie Pathologen staf, Brain, Cancer, Pathologie Groep Van Diest, Neurologen, Pathologie, Huschner, Franz, Głowacka-Walas, Jagoda, Mills, James D, Klonowska, Katarzyna, Lasseter, Kathryn, Asara, John M, Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C, Petrák, Bořivoj, van Scheppingen, Jackelien, Zamecnik, Josef, Iyer, Anand, Anink, Jasper J, Mühlebner, Angelika, Mijnsbergen, Caroline, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Blazejczyk, Magdalena, Jansen, Floor E, Janson, Stef, Urbanska, Malgorzata, Tempes, Aleksandra, Janssen, Bart, Sijko, Kamil, Wojdan, Konrad, Jozwiak, Sergiusz, Kotulska, Katarzyna, Lehmann, Karola, Aronica, Eleonora, Jaworski, Jacek, and Kwiatkowski, David J

Published
2023

33. Author Correction:Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (Scientific Reports, (2017), 7, 1, (8089), 10.1038/s41598-017-06145-8)

Author

Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora, Pathology, APH - Aging & Later Life, APH - Mental Health, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Center of Experimental and Molecular Medicine, AII - Infectious diseases, and AII - Inflammatory diseases

Abstract

This Article contains an error in the Acknowledgements section. “This work was supported by European Union’s Seventh Framework Programme (FP7/2007-2013) under the grant agreement no. 602391 (project acronym EPISTOP; A.I., J.v.S., A.M., E.A., F.I., K.K., S.K., A.J., L.L., P.C., D.K.); Epilepsiefonds (WAR 15-05; RJP); European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 642881 (ECMED; A.E., J.G.). None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.” should read: “This work was supported by European Union’s Seventh Framework Programme (FP7/2007-2013) under the Grant Agreement no. 602391 (project acronym EPISTOP; A.I., J.v.S., A.M., E.A., F.I., K.K., S.J., A.J., L.L., P.C., D.K.) and partially supported by the Polish Ministerial funds for science (years 2013–2019) for the implementation of international co-financed project (K.K, S.J.); Epilepsiefonds (WAR 15-05; RJP); European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 642881 (ECMED; A.E., J.G.). None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.”.

Published
2022
Full Text
View/download PDF

34. Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification

Author

Keck, Michaela-Kristina, primary, Sill, Martin, additional, Wittmann, Andrea, additional, Joshi, Piyush, additional, Stichel, Damian, additional, Beck, Pengbo, additional, Okonechnikow, Konstantin, additional, Sievers, Philipp, additional, Wefers, Annika K., additional, Roncaroli, Federico, additional, Avula, Shivaram, additional, McCabe, Martin G., additional, Hayden, James T., additional, Wesseling, Pieter, additional, Øra, Ingrid, additional, Nistér, Monica, additional, Kranendonk, Mariëtte E. G., additional, Tops, Bastiaan B. J., additional, Zapotocky, Michal, additional, Zamecnik, Josef, additional, Vasiljevic, Alexandre, additional, Fenouil, Tanguy, additional, Meyronet, David, additional, von Hoff, Katja, additional, Schüller, Ulrich, additional, Loiseau, Hugues, additional, Figarella-Branger, Dominique, additional, Kramm, Christof M., additional, Sturm, Dominik, additional, Scheie, David, additional, Rauramaa, Tuomas, additional, Pesola, Jouni, additional, Gojo, Johannes, additional, Haberler, Christine, additional, Brandner, Sebastian, additional, Jacques, Tom, additional, Sexton Oates, Alexandra, additional, Saffery, Richard, additional, Koscielniak, Ewa, additional, Baker, Suzanne J., additional, Yip, Stephen, additional, Snuderl, Matija, additional, Ud Din, Nasir, additional, Samuel, David, additional, Schramm, Kathrin, additional, Blattner-Johnson, Mirjam, additional, Selt, Florian, additional, Ecker, Jonas, additional, Milde, Till, additional, von Deimling, Andreas, additional, Korshunov, Andrey, additional, Perry, Arie, additional, Pfister, Stefan M., additional, Sahm, Felix, additional, Solomon, David A., additional, and Jones, David T. W., additional

Published
2022
Full Text
View/download PDF

36. Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

Author

Neurologen, Brain, Pathologie Pathologen staf, Cancer, Neurochirurgen, Pathologie, Korotkov, Anatoly, Luinenburg, Mark J, Romagnolo, Alessia, Zimmer, Till S, van Scheppingen, Jackelien, Bongaarts, Anika, Broekaart, Diede W M, Anink, Jasper J, Mijnsbergen, Caroline, Jansen, Floor E, van Hecke, Wim, Spliet, Wim G, van Rijen, Peter C, Feucht, Martha, Hainfellner, Johannes A, Krsek, Pavel, Zamecnik, Josef, Crino, Peter B, Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C, Kwiatkowski, David J, Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, van Vliet, Erwin A, Mills, James D, Aronica, Eleonora, Neurologen, Brain, Pathologie Pathologen staf, Cancer, Neurochirurgen, Pathologie, Korotkov, Anatoly, Luinenburg, Mark J, Romagnolo, Alessia, Zimmer, Till S, van Scheppingen, Jackelien, Bongaarts, Anika, Broekaart, Diede W M, Anink, Jasper J, Mijnsbergen, Caroline, Jansen, Floor E, van Hecke, Wim, Spliet, Wim G, van Rijen, Peter C, Feucht, Martha, Hainfellner, Johannes A, Krsek, Pavel, Zamecnik, Josef, Crino, Peter B, Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C, Kwiatkowski, David J, Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, van Vliet, Erwin A, Mills, James D, and Aronica, Eleonora

Published
2022

38. SURG-05. Survival and functional outcomes in pediatric thalamic and thalamopeduncular low grade gliomas

Author

Benes, Vladimir, primary, Zapotocky, Michal, additional, Liby, Petr, additional, Taborsky, Jakub, additional, Blazkova Jr., Jana, additional, Blazkova Sr., Jana, additional, Sumerauer, David, additional, Misove, Adela, additional, Pernikova, Ivana, additional, Kyncl, Martin, additional, Krskova, Lenka, additional, Koblizek, Miroslav, additional, Zamecnik, Josef, additional, Bradac, Ondrej, additional, and Tichy, Michal, additional

Published
2022
Full Text
View/download PDF

39. HGG-49. Gliomatosis cerebri in children: A collaborative report from the European Society for Pediatric Oncology (SIOPE)

Author

Nussbaumer, Gunther, primary, Benesch, Martin, additional, Gielen, Gerrit H, additional, Castel, David, additional, Grill, Jacques, additional, Alonso Roldán, Marta M, additional, Antonelli, Manila, additional, Bailey, Simon, additional, Baugh, Joshua N, additional, Biassoni, Veronica, additional, Carai, Andrea, additional, Colditz, Niclas, additional, Colefati, Giovanni Stefania, additional, Corbacioglu, Selim, additional, Crampsie, Shauna, additional, Entz-Werle, Natacha, additional, Eyrich, Matthias, additional, Frühwald, Michael C, additional, Garrè, Maria Luisa, additional, Gerber, Nicolas U, additional, Giangaspero, Felice, additional, Gil-da-Costa, Maria João, additional, Grabovska, Yura, additional, Graf, Norbert, additional, Hargrave, Darren, additional, Hauser, Peter, additional, Hoffmann, Marion, additional, Hulleman, Esther, additional, Jacobs, Sandra, additional, Karremann, Michael, additional, Kattamis, Antonis, additional, Kebudi, Rejin, additional, Kortmann, Rolf-Dieter, additional, Kwiecien, Robert, additional, Mackay, Alan, additional, Massimino, Maura, additional, Miele, Evelina, additional, Mastronuzzi, Angela, additional, Morana, Giovanni, additional, Noack, Claudia M, additional, Pentikainen, Virve, additional, Perwein, Thomas, additional, Pfister, Stefan M, additional, Pietsch, Torsten, additional, Roka, Kleoniki, additional, Rossi, Sabrina, additional, Rutkowski, Stefan, additional, Schiavello, Elisabetta, additional, Štěrba, Jaroslav, additional, Sturm, Dominik, additional, Sumerauer, David, additional, Temelso, Sara, additional, van Vuurden, Dannis, additional, Varlet, Pascale, additional, Veldhuijzen van Zanten, Sophie E M, additional, Vinci, Maria, additional, von Bueren, André O, additional, Warmuth-Metz, Monika, additional, Wesseling, Pieter, additional, Wiese, Maria, additional, Wolff, Johannes E A, additional, Zamecnik, Josef, additional, Jones, David T W, additional, Bison, Brigitte, additional, La Madrid, Andrés Morales, additional, Jones, Chris, additional, and Kramm, Christof M, additional

Published
2022
Full Text
View/download PDF

41. Additional file 2 of Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas

Author

Misove, Adela, Vicha, Ales, Broz, Petr, Vanova, Katerina, Sumerauer, David, Stolova, Lucie, Sramkova, Lucie, Koblizek, Miroslav, Zamecnik, Josef, Kyncl, Martin, Holubova, Zuzana, Liby, Petr, Taborsky, Jakub, Benes, Vladimir, Pernikova, Ivana, Jones, David T. W., Sill, Martin, Stancokova, Terezia, Krskova, Lenka, and Zapotocky, Michal

Abstract

Additional file 2: Table S2. Table showing the complete sLGGs cohort emphasizing the original histology before molecular pathology reevaluation, anatomical location, and molecular-biology data.

Published
2022
Full Text
View/download PDF

42. Additional file 2 of Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

Author

Korotkov, Anatoly, Luinenburg, Mark J., Romagnolo, Alessia, Zimmer, Till S., van Scheppingen, Jackelien, Bongaarts, Anika, Broekaart, Diede W. M., Anink, Jasper J., Mijnsbergen, Caroline, Jansen, Floor E., van Hecke, Wim, Spliet, Wim G., van Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, M��hlebner, Angelika, van Vliet, Erwin A., Mills, James D., and Aronica, Eleonora

Subjects
Data_FILES
Abstract

Additional file 2.

Published
2022
Full Text
View/download PDF

43. Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Author

Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., and Aronica, Eleonora

Published
2017
Full Text
View/download PDF

50. GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

Author

Opleiding Neurologie, Pathologie, Neurologen, Brain, Genetica, Genetica Groep Koeleman, Child Health, Circulatory Health, Cancer, Benova, Barbora, Sanders, Maurits W.C.B., Uhrova-Meszarosova, Anna, Belohlavkova, Anezka, Hermanovska, Barbora, Novak, Vilem, Stanek, David, Vlckova, Marketa, Zamecnik, Josef, Aronica, Eleonora, Braun, Kees P.J., Koeleman, Bobby P.C., Jansen, Floor E., Krsek, Pavel, Opleiding Neurologie, Pathologie, Neurologen, Brain, Genetica, Genetica Groep Koeleman, Child Health, Circulatory Health, Cancer, Benova, Barbora, Sanders, Maurits W.C.B., Uhrova-Meszarosova, Anna, Belohlavkova, Anezka, Hermanovska, Barbora, Novak, Vilem, Stanek, David, Vlckova, Marketa, Zamecnik, Josef, Aronica, Eleonora, Braun, Kees P.J., Koeleman, Bobby P.C., Jansen, Floor E., and Krsek, Pavel

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results