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1. 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

2. 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, Kwiatkowski, David J., 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.

Abstract

We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in which 93 infants with TSC were followed from birth to age 2 years, seeking biomarkers of epilepsy development. Vigabatrin had profound effects on many metabolites, increasing serum deoxycytidine monophosphate (dCMP) levels 52-fold. Most serum proteins and metabolites, and blood RNA species showed significant change with age. Thirty-nine proteins, metabolites, and genes showed significant differences between age-matched control and TSC infants. Six also showed a progressive difference in expression between control, TSC without epilepsy, and TSC with epilepsy groups. A multivariate approach using enrollment samples identified multiple 3-variable predictors of epilepsy, with the best having a positive predictive value of 0.987. This rich dataset will enable further discovery and analysis of developmental effects, and associations with seizure development in TSC.

Published
2023

3. 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

4. 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, Aronica, Eleonora, 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

Abstract

BACKGROUND: The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers, and recurrent epileptic seizures (in 70-80% cases). Previous transcriptomic analysis of cortical tubers revealed dysregulation of genes involved in cell adhesion in the brain, which may be associated with the neurodevelopmental deficits in TSC. In this study we aimed to investigate the expression of one of these genes - cell-adhesion molecule contactin-3.METHODS: Reverse transcription quantitative polymerase chain reaction for the contactin-3 gene (CNTN3) was performed in resected cortical tubers from TSC patients with drug-resistant epilepsy (n = 35, age range: 1-48 years) and compared to autopsy-derived cortical control tissue (n = 27, age range: 0-44 years), as well as by western blot analysis of contactin-3 (n = 7 vs n = 7, age range: 0-3 years for both TSC and controls) and immunohistochemistry (n = 5 TSC vs n = 4 controls). The expression of contactin-3 was further analyzed in fetal and postnatal control tissue by western blotting and in-situ hybridization, as well as in the SH-SY5Y neuroblastoma cell line differentiation model in vitro.RESULTS: CNTN3 gene expression was lower in cortical tubers from patients across a wide range of ages (fold change = - 0.5, p < 0.001) as compared to controls. Contactin-3 protein expression was lower in the age range of 0-3 years old (fold change = - 3.8, p < 0.001) as compared to the age-matched controls. In control brain tissue, contactin-3 gene and protein expression could be detected during fetal development, peaked around birth and during infancy and declined in the adult brain. CNTN3 expression was induced in the differentiated SH-SY5Y neuroblastoma cell

Published
2022

5. 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, Aronica, Eleonora, 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

Abstract

BACKGROUND: The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers, and recurrent epileptic seizures (in 70-80% cases). Previous transcriptomic analysis of cortical tubers revealed dysregulation of genes involved in cell adhesion in the brain, which may be associated with the neurodevelopmental deficits in TSC. In this study we aimed to investigate the expression of one of these genes - cell-adhesion molecule contactin-3.METHODS: Reverse transcription quantitative polymerase chain reaction for the contactin-3 gene (CNTN3) was performed in resected cortical tubers from TSC patients with drug-resistant epilepsy (n = 35, age range: 1-48 years) and compared to autopsy-derived cortical control tissue (n = 27, age range: 0-44 years), as well as by western blot analysis of contactin-3 (n = 7 vs n = 7, age range: 0-3 years for both TSC and controls) and immunohistochemistry (n = 5 TSC vs n = 4 controls). The expression of contactin-3 was further analyzed in fetal and postnatal control tissue by western blotting and in-situ hybridization, as well as in the SH-SY5Y neuroblastoma cell line differentiation model in vitro.RESULTS: CNTN3 gene expression was lower in cortical tubers from patients across a wide range of ages (fold change = - 0.5, p < 0.001) as compared to controls. Contactin-3 protein expression was lower in the age range of 0-3 years old (fold change = - 3.8, p < 0.001) as compared to the age-matched controls. In control brain tissue, contactin-3 gene and protein expression could be detected during fetal development, peaked around birth and during infancy and declined in the adult brain. CNTN3 expression was induced in the differentiated SH-SY5Y neuroblastoma cell

Published
2022

6. 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

7. 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

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

Author

Nobre, Liana, 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, Nageswara Rao, Amulya A, 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, Ramaswamy, Vijay, Nobre, Liana, 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, Nageswara Rao, Amulya A, 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

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

Author

Nobre, Liana, 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, Nageswara Rao, Amulya A, 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, Ramaswamy, Vijay, Nobre, Liana, 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, Nageswara Rao, Amulya A, 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

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

10. 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., Nageswara Rao, Amulya A., 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, Ramaswamy, Vijay, 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., Nageswara Rao, Amulya A., 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

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

11. Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers

Author

Pathologie Pathologen staf, Cancer, Neurologen, Brain, ZL Kinder Ner en Nec Medisch, Pathologie, Mühlebner, Angelika, van Scheppingen, Jackelien, de Neef, Andrew, Bongaarts, Anika, Zimmer, Till S, Mills, James D, Jansen, Floor E, Spliet, Wim G M, Krsek, Pavel, Zamecnik, Josef, Coras, Roland, Blumcke, Ingmar, Feucht, Martha, Scholl, Theresa, Gruber, Victoria-Elisabeth, Hainfellner, Johannes A, Söylemezoğlu, Figen, Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C, Kwiatkowski, David J, Jozwiak, Sergiusz, Curatolo, Paolo, Aronica, Eleonora, Pathologie Pathologen staf, Cancer, Neurologen, Brain, ZL Kinder Ner en Nec Medisch, Pathologie, Mühlebner, Angelika, van Scheppingen, Jackelien, de Neef, Andrew, Bongaarts, Anika, Zimmer, Till S, Mills, James D, Jansen, Floor E, Spliet, Wim G M, Krsek, Pavel, Zamecnik, Josef, Coras, Roland, Blumcke, Ingmar, Feucht, Martha, Scholl, Theresa, Gruber, Victoria-Elisabeth, Hainfellner, Johannes A, Söylemezoğlu, Figen, Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C, Kwiatkowski, David J, Jozwiak, Sergiusz, Curatolo, Paolo, and Aronica, Eleonora

Published
2020

12. The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas

Author

ZL Kinder Ner en Nec Medisch, Brain, Pathologie mortuarium en obductie, Pathologie Pathologen staf, Cancer, Pathologie Opleiding, Pathologie, Bongaarts, Anika, van Scheppingen, Jackelien, Korotkov, Anatoly, Mijnsbergen, Caroline, Anink, Jasper J., Jansen, Floor E., Spliet, Wim G.M., den Dunnen, Wilfred F.A., Gruber, Victoria E., Scholl, Theresa, Samueli, Sharon, Hainfellner, Johannes A., Feucht, Martha, Kotulska, Katarzyna, Jozwiak, Sergiusz, Grajkowska, Wieslawa, Buccoliero, Anna Maria, Caporalini, Chiara, Giordano, Flavio, Genitori, Lorenzo, Coras, Roland, Blümcke, Ingmar, Krsek, Pavel, Zamecnik, Josef, Meijer, Lisethe, Scicluna, Brendon P., Schouten-van Meeteren, Antoinette Y.N., Mühlebner, Angelika, Mills, James D., Aronica, Eleonora, ZL Kinder Ner en Nec Medisch, Brain, Pathologie mortuarium en obductie, Pathologie Pathologen staf, Cancer, Pathologie Opleiding, Pathologie, Bongaarts, Anika, van Scheppingen, Jackelien, Korotkov, Anatoly, Mijnsbergen, Caroline, Anink, Jasper J., Jansen, Floor E., Spliet, Wim G.M., den Dunnen, Wilfred F.A., Gruber, Victoria E., Scholl, Theresa, Samueli, Sharon, Hainfellner, Johannes A., Feucht, Martha, Kotulska, Katarzyna, Jozwiak, Sergiusz, Grajkowska, Wieslawa, Buccoliero, Anna Maria, Caporalini, Chiara, Giordano, Flavio, Genitori, Lorenzo, Coras, Roland, Blümcke, Ingmar, Krsek, Pavel, Zamecnik, Josef, Meijer, Lisethe, Scicluna, Brendon P., Schouten-van Meeteren, Antoinette Y.N., Mühlebner, Angelika, Mills, James D., and Aronica, Eleonora

Published
2020

13. 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, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, Aronica, Eleonora, Mills, James D., Iyer, Anand M., Van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, and Aronica, Eleonora

Published
2017

14. 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, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, Aronica, Eleonora, Mills, James D., Iyer, Anand M., Van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, and Aronica, Eleonora

Published
2017

15. 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, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, Aronica, Eleonora, Mills, James D., Iyer, Anand M., Van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, and Aronica, Eleonora

Published
2017

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

Author

Pathologie Groep Blokx, UMC Utrecht, Pathologie Pathologen staf, Cancer, Zorglijn FNE Medisch, Brain, ZL Kinder Ner en Nec Medisch, TN groep Pasterkamp, Regenerative Medicine and Stem Cells, Pathologie, Mills, James D., Iyer, Anand M., Van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, Aronica, Eleonora, Pathologie Groep Blokx, UMC Utrecht, Pathologie Pathologen staf, Cancer, Zorglijn FNE Medisch, Brain, ZL Kinder Ner en Nec Medisch, TN groep Pasterkamp, Regenerative Medicine and Stem Cells, Pathologie, Mills, James D., Iyer, Anand M., Van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper, 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., Jeroen Pasterkamp, R., Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F. M., Gorter, Jan A, Crino, Peter B, Mühlebner, Angelika, Scicluna, Brendon P, and Aronica, Eleonora

Published
2017

17. Novel histopathological patterns in cortical tubers of epilepsy surgery patients with tuberous sclerosis complex

Author

Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora, Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, and Aronica, Eleonora

Published
2016

18. Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC) : Evidence from layer-specific marker expression

Author

Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, Aronica, Eleonora, Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, and Aronica, Eleonora

Published
2016

19. Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions

Author

Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, Palma, Eleonora, Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, and Palma, Eleonora

Published
2016

20. Novel histopathological patterns in cortical tubers of epilepsy surgery patients with tuberous sclerosis complex

Author

Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora, Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, and Aronica, Eleonora

Published
2016

21. Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions

Author

Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, Palma, Eleonora, Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, and Palma, Eleonora

Published
2016

22. Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC) : Evidence from layer-specific marker expression

Author

Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, Aronica, Eleonora, Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, and Aronica, Eleonora

Published
2016

23. Novel histopathological patterns in cortical tubers of epilepsy surgery patients with tuberous sclerosis complex

Author

Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora, Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, and Aronica, Eleonora

Published
2016

24. Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC) : Evidence from layer-specific marker expression

Author

Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, Aronica, Eleonora, Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, and Aronica, Eleonora

Published
2016

25. Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions

Author

Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, Palma, Eleonora, Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, and Palma, Eleonora

Published
2016

26. Novel histopathological patterns in cortical tubers of epilepsy surgery patients with tuberous sclerosis complex

Author

Opleiding Neurologie, Brain, ZL Algemene Neurologie Medisch, Pathologie Pathologen staf, Cancer, Pathologie, Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora, Opleiding Neurologie, Brain, ZL Algemene Neurologie Medisch, Pathologie Pathologen staf, Cancer, Pathologie, Mühlebner, Angelika, Van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, and Aronica, Eleonora

Published
2016

27. Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC): Evidence from layer-specific marker expression

Author

ZL Algemene Neurologie Medisch, Brain, ZL Kinder Ner en Nec Medisch, Zorglijn FNE Medisch, Pathologie Pathologen staf, Cancer, Pathologie, Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, Aronica, Eleonora, ZL Algemene Neurologie Medisch, Brain, ZL Kinder Ner en Nec Medisch, Zorglijn FNE Medisch, Pathologie Pathologen staf, Cancer, Pathologie, Mühlebner, Angelika, Iyer, Anand M., Van Scheppingen, Jackelien, Anink, Jasper J., Jansen, Floor E., Veersema, Tim J., Braun, Kees P., Spliet, Wim G M, Van Hecke, Wim, Söylemezoǧlu, Figen, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Bien, Christian G., Polster, Tilman, Coras, Roland, Blümcke, Ingmar, and Aronica, Eleonora

Published
2016

28. Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions

Author

Brain, ZL Kinder Ner en Nec Medisch, Pathologie Pathologen staf, Cancer, Pathologie, Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, Palma, Eleonora, Brain, ZL Kinder Ner en Nec Medisch, Pathologie Pathologen staf, Cancer, Pathologie, Ruffolo, Gabriele, Iyer, Anand, Cifelli, Pierangelo, Roseti, Cristina, Mühlebner, Angelika, van Scheppingen, Jackelien, Scholl, Theresa, Hainfellner, Johannes A, Feucht, Martha, Krsek, Pavel, Zamecnik, Josef, Jansen, Floor E, Spliet, Wim G M, Limatola, Cristina, Aronica, Eleonora, and Palma, Eleonora

Published
2016

29. Resistin in idiopathic inflammatory myopathies

Author

Filkova, Maria, Hulejova, Hana, Kuncova, Klara, Plestilova, Lenka, Andrés Cerezo, Lucie, Mann, Herman, Klein, Martin, Zamecnik, Josef, Gay, Steffen, Vencovsky, Jiri, Senolt, Ladislav, Filkova, Maria, Hulejova, Hana, Kuncova, Klara, Plestilova, Lenka, Andrés Cerezo, Lucie, Mann, Herman, Klein, Martin, Zamecnik, Josef, Gay, Steffen, Vencovsky, Jiri, and Senolt, Ladislav

Abstract

INTRODUCTION: To evaluate and compare the serum levels and local expression of resistin in patients with idiopathic inflammatory myopathies to controls, and to determine the relationship between resistin levels, inflammation and disease activity. METHODS: Serum resistin levels were determined in 42 patients with inflammatory myopathies and 27 healthy controls. The association between resistin levels, inflammation, global disease activity and muscle strength was examined. The expression of resistin in muscle tissues from patients with inflammatory myopathies and healthy controls was evaluated. Gene expression and protein release from resistin-stimulated muscle and mononuclear cells were assessed. RESULTS: In patients with inflammatory myopathies, the serum levels of resistin were significantly higher than those observed in controls (8.53+/-6.84 vs. 4.54+/-1.08 ng/ml, P<0.0001) and correlated with CRP levels (r=0.328, P=0.044) and global disease activity score MYOACT (r=0.382, P=0.026). Stronger association was observed between the levels of serum resistin and C-reactive protein (CRP) levels (r=0.717, P=0.037) as well as myositis disease activity assessment visual analogue scales (MYOACT; r=0.798, P=0.007), and there was a trend towards correlation between serum resistin and myoglobin levels (r=0.650, P=0.067) in anti-Jo-1 positive patients. Furthermore, in patients with DM, serum resistin levels significantly correlated with MYOACT (r=0.667, P=0.001), creatine kinase (r=0.739, P=0.001) and myoglobin levels (r=0.791, P=0.0003) and showed a trend towards correlation with CRP levels (r=0.447, P=0.067). Resistin expression in muscle tissue was significantly higher in patients with inflammatory myopathies compared to controls, and resistin induced the expression of interleukins (IL)-1beta and IL-6 and monocyte chemoattractant protein (MCP)-1 in mononuclear cells but not in myocytes. CONCLUSIONS: The results of this study indicate that higher levels of serum resi

Published
2012

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