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3. Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Author

Sturm, Dominik, Capper, David, Andreiuolo, Felipe, Gessi, Marco, Kölsche, Christian, Reinhardt, Annekathrin, Sievers, Philipp, Wefers, Annika K., Ebrahimi, Azadeh, Suwala, Abigail K., Gielen, Gerrit H., Sill, Martin, Schrimpf, Daniel, Stichel, Damian, Hovestadt, Volker, Daenekas, Bjarne, Rode, Agata, Hamelmann, Stefan, Previti, Christopher, Jäger, Natalie, Buchhalter, Ivo, Blattner-Johnson, Mirjam, Jones, Barbara C., Warmuth-Metz, Monika, Bison, Brigitte, Grund, Kerstin, Sutter, Christian, Hirsch, Steffen, Dikow, Nicola, Hasselblatt, Martin, Schüller, Ulrich, Koch, Arend, Gerber, Nicolas U., White, Christine L., Buntine, Molly K., Kinross, Kathryn, Algar, Elizabeth M., Hansford, Jordan R., Gottardo, Nicholas G., Schuhmann, Martin U., Thomale, Ulrich W., Hernáiz Driever, Pablo, Gnekow, Astrid, Witt, Olaf, Müller, Hermann L., Calaminus, Gabriele, Fleischhack, Gudrun, Kordes, Uwe, Mynarek, Martin, Rutkowski, Stefan, Frühwald, Michael C., Kramm, Christof M., von Deimling, Andreas, Pietsch, Torsten, Sahm, Felix, Pfister, Stefan M., and Jones, David. T. W.

Published
2023
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4. Author Correction: Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Author

Sturm, Dominik, Capper, David, Andreiuolo, Felipe, Gessi, Marco, Kölsche, Christian, Reinhardt, Annekathrin, Sievers, Philipp, Wefers, Annika K., Ebrahimi, Azadeh, Suwala, Abigail K., Gielen, Gerrit H., Sill, Martin, Schrimpf, Daniel, Stichel, Damian, Hovestadt, Volker, Daenekas, Bjarne, Rode, Agata, Hamelmann, Stefan, Previti, Christopher, Jäger, Natalie, Buchhalter, Ivo, Blattner-Johnson, Mirjam, Jones, Barbara C., Warmuth-Metz, Monika, Bison, Brigitte, Grund, Kerstin, Sutter, Christian, Hirsch, Steffen, Dikow, Nicola, Hasselblatt, Martin, Schüller, Ulrich, Koch, Arend, Gerber, Nicolas U., White, Christine L., Buntine, Molly K., Kinross, Kathryn, Algar, Elizabeth M., Hansford, Jordan R., Gottardo, Nicholas G., Schuhmann, Martin U., Thomale, Ulrich W., Hernáiz Driever, Pablo, Gnekow, Astrid, Witt, Olaf, Müller, Hermann L., Calaminus, Gabriele, Fleischhack, Gudrun, Kordes, Uwe, Mynarek, Martin, Rutkowski, Stefan, Frühwald, Michael C., Kramm, Christof M., von Deimling, Andreas, Pietsch, Torsten, Sahm, Felix, Pfister, Stefan M., and Jones, David. T. W.

Published
2024
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6. CIC/ATXN1‐rearranged tumors in the central nervous system are mainly represented by sarcomas: A comprehensive clinicopathological and epigenetic series.

Author

Tauziède‐Espariat, Arnault, Ebrahimi, Azadeh, Boddaert, Nathalie, Pietsch, Torsten, Grajkowska, Wieslawa, Blau, Tobias, Koch, Arend, Sievers, Philipp, Guillemot, Delphine, Pierron, Gaëlle, Uro‐Coste, Emmanuelle, Nicaise, Yvan, Siegfried, Aurore, Gilles, Adam, Bielle, Franck, Mokhtari, Karima, Cazals‐Hatem, Dominique, Iakovlev, Gueorgui, Lhermitte, Benoît, and Entz‐Werle, Natacha

Subjects
*GENE expression, *DNA methylation, *CENTRAL nervous system, *BRAIN tumors, CENTRAL nervous system tumors
Abstract

CIC fusions have been described in two different central nervous system (CNS) tumor entities. On one hand, fusions of CIC or ATXN1 genes belonging to the same complex of transcriptional repressors, were reported in the CIC‐rearranged, sarcoma (SARC‐CIC). The diagnosis of this tumor type, which was recently added to the World Health Organization (WHO) Classification of CNS tumors, is difficult mainly because the data concerning its histopathology (as compared to its soft tissue counterpart), immunoprofile, and clinical as well as radiological characteristics are scarce in the literature. On the other hand, a recent study, based on DNA‐methylation profiling, has identified a novel high‐grade neuroepithelial tumor characterized by recurrent CIC fusions (HGNET‐CIC). The aim of this multicentric study was to characterize a cohort of 15 primary CNS tumors harboring a CIC or ATXN1 fusion in terms of clinical, radiological, histopathological, immunophenotypical, and epigenetic characteristics. According to the integrated diagnoses, 14/15 tumors corresponded to SARC‐CIC, and only one to HGNET‐CIC. The tumors showed similar clinical (mainly pediatric), radiological (mostly supratentorial, cystic, and contrast enhancing), immunophenotypical (common expression of glioneuronal markers), and genetic (similar spectrum of fusions) profiles but their histopathological appearance was clearly distinct. Moreover, we found a novel fusion transcript (CIC::EWSR1) in a SARC‐CIC. Most DNA methylation profiles using the Heidelberg Brain Tumor Classifier (v12.8) annotated the samples to the methylation class “SARC‐CIC” (9/14 tumors with available data). By using uniform manifold approximation and projection analysis, four other samples were classified as SARC‐CIC and another clustered within the methylation class of HGNET‐CIC. Our findings confirm that CNS CIC‐fused tumors do not represent a single molecular tumor entity. Further analyses are needed to characterize HGNET‐CIC in more detail. These results may help to refine the essential diagnostic criteria for SARC‐CIC and their terminology (with a suggested consensual name of sarcoma, CIC/ATXN1‐complex rearranged). [ABSTRACT FROM AUTHOR]

Published
2024
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7. Disseminated diffuse midline gliomas, H3K27-altered mimicking diffuse leptomeningeal glioneuronal tumors: a diagnostical challenge!

Author

Tauziède-Espariat, Arnault, Siegfried, Aurore, Uro-Coste, Emmanuelle, Nicaise, Yvan, Castel, David, Sevely, Annick, Gambart, Marion, Boetto, Sergio, Hasty, Lauren, Métais, Alice, Chrétien, Fabrice, Benzakoun, Joseph, Puget, Stéphanie, Grill, Jacques, Dangouloff-Ros, Volodia, Boddaert, Nathalie, Ebrahimi, Azadeh, and Varlet, Pascale

Published
2022
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8. Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival

Author

Ebrahimi, Azadeh, Korshunov, Andrey, Reifenberger, Guido, Capper, David, Felsberg, Joerg, Trisolini, Elena, Pollo, Bianca, Calatozzolo, Chiara, Prinz, Marco, Staszewski, Ori, Schweizer, Leonille, Schittenhelm, Jens, Harter, Patrick N., Paulus, Werner, Thomas, Christian, Kohlhof-Meinecke, Patricia, Seiz-Rosenhagen, Marcel, Milde, Till, Casalini, Belén M., Suwala, Abigail, Wefers, Annika K., Reinhardt, Annekathrin, Sievers, Philipp, Kramm, Christof M., Etminam, Nima, Unterberg, Andreas, Wick, Wolfgang, Herold-Mende, Christel, Sturm, Dominik, Pfister, Stefan M., Sill, Martin, Jones, David T. W., Schrimpf, Daniel, Reuss, David E., Aldape, Ken, Abdullaev, Zied, Sahm, Felix, von Deimling, Andreas, and Stichel, Damian

Published
2022
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9. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

Author

Wefers, Annika K., Stichel, Damian, Schrimpf, Daniel, Coras, Roland, Pages, Mélanie, Tauziède-Espariat, Arnault, Varlet, Pascale, Schwarz, Daniel, Söylemezoglu, Figen, Pohl, Ute, Pimentel, José, Meyer, Jochen, Hewer, Ekkehard, Japp, Anna, Joshi, Abhijit, Reuss, David E., Reinhardt, Annekathrin, Sievers, Philipp, Casalini, M. Belén, Ebrahimi, Azadeh, Huang, Kristin, Koelsche, Christian, Low, Hu Liang, Rebelo, Olinda, Marnoto, Dina, Becker, Albert J., Staszewski, Ori, Mittelbronn, Michel, Hasselblatt, Martin, Schittenhelm, Jens, Cheesman, Edmund, de Oliveira, Ricardo Santos, Queiroz, Rosane Gomes P., Valera, Elvis Terci, Hans, Volkmar H., Korshunov, Andrey, Olar, Adriana, Ligon, Keith L., Pfister, Stefan M., Jaunmuktane, Zane, Brandner, Sebastian, Tatevossian, Ruth G., Ellison, David W., Jacques, Thomas S., Honavar, Mrinalini, Aronica, Eleonora, Thom, Maria, Sahm, Felix, von Deimling, Andreas, Jones, David T. W., Blumcke, Ingmar, and Capper, David

Published
2020
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10. Sarcoma classification by DNA methylation profiling

Author

Koelsche, Christian, Schrimpf, Daniel, Stichel, Damian, Sill, Martin, Sahm, Felix, Reuss, David E., Blattner, Mirjam, Worst, Barbara, Heilig, Christoph E., Beck, Katja, Horak, Peter, Kreutzfeldt, Simon, Paff, Elke, Stark, Sebastian, Johann, Pascal, Selt, Florian, Ecker, Jonas, Sturm, Dominik, Pajtler, Kristian W., Reinhardt, Annekathrin, Wefers, Annika K., Sievers, Philipp, Ebrahimi, Azadeh, Suwala, Abigail, Fernández-Klett, Francisco, Casalini, Belén, Korshunov, Andrey, Hovestadt, Volker, Kommoss, Felix K. F., Kriegsmann, Mark, Schick, Matthias, Bewerunge-Hudler, Melanie, Milde, Till, Witt, Olaf, Kulozik, Andreas E., Kool, Marcel, Romero-Pérez, Laura, Grünewald, Thomas G. P., Kirchner, Thomas, Wick, Wolfgang, Platten, Michael, Unterberg, Andreas, Uhl, Matthias, Abdollahi, Amir, Debus, Jürgen, Lehner, Burkhard, Thomas, Christian, Hasselblatt, Martin, Paulus, Werner, Hartmann, Christian, Staszewski, Ori, Prinz, Marco, Hench, Jürgen, Frank, Stephan, Versleijen-Jonkers, Yvonne M. H., Weidema, Marije E., Mentzel, Thomas, Griewank, Klaus, de Álava, Enrique, Martín, Juan Díaz, Gastearena, Miguel A. Idoate, Chang, Kenneth Tou-En, Low, Sharon Yin Yee, Cuevas-Bourdier, Adrian, Mittelbronn, Michel, Mynarek, Martin, Rutkowski, Stefan, Schüller, Ulrich, Mautner, Viktor F., Schittenhelm, Jens, Serrano, Jonathan, Snuderl, Matija, Büttner, Reinhard, Klingebiel, Thomas, Buslei, Rolf, Gessler, Manfred, Wesseling, Pieter, Dinjens, Winand N. M., Brandner, Sebastian, Jaunmuktane, Zane, Lyskjær, Iben, Schirmacher, Peter, Stenzinger, Albrecht, Brors, Benedikt, Glimm, Hanno, Heining, Christoph, Tirado, Oscar M., Sáinz-Jaspeado, Miguel, Mora, Jaume, Alonso, Javier, del Muro, Xavier Garcia, Moran, Sebastian, Esteller, Manel, Benhamida, Jamal K., Ladanyi, Marc, Wardelmann, Eva, Antonescu, Cristina, Flanagan, Adrienne, Dirksen, Uta, Hohenberger, Peter, Baumhoer, Daniel, Hartmann, Wolfgang, Vokuhl, Christian, Flucke, Uta, Petersen, Iver, Mechtersheimer, Gunhild, Capper, David, Jones, David T. W., Fröhling, Stefan, Pfister, Stefan M., and von Deimling, Andreas

Published
2021
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11. Author Correction: Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Author

Sturm, Dominik, primary, Capper, David, additional, Andreiuolo, Felipe, additional, Gessi, Marco, additional, Kölsche, Christian, additional, Reinhardt, Annekathrin, additional, Sievers, Philipp, additional, Wefers, Annika K., additional, Ebrahimi, Azadeh, additional, Suwala, Abigail K., additional, Gielen, Gerrit H., additional, Sill, Martin, additional, Schrimpf, Daniel, additional, Stichel, Damian, additional, Hovestadt, Volker, additional, Daenekas, Bjarne, additional, Rode, Agata, additional, Hamelmann, Stefan, additional, Previti, Christopher, additional, Jäger, Natalie, additional, Buchhalter, Ivo, additional, Blattner-Johnson, Mirjam, additional, Jones, Barbara C., additional, Warmuth-Metz, Monika, additional, Bison, Brigitte, additional, Grund, Kerstin, additional, Sutter, Christian, additional, Hirsch, Steffen, additional, Dikow, Nicola, additional, Hasselblatt, Martin, additional, Schüller, Ulrich, additional, Koch, Arend, additional, Gerber, Nicolas U., additional, White, Christine L., additional, Buntine, Molly K., additional, Kinross, Kathryn, additional, Algar, Elizabeth M., additional, Hansford, Jordan R., additional, Gottardo, Nicholas G., additional, Schuhmann, Martin U., additional, Thomale, Ulrich W., additional, Hernáiz Driever, Pablo, additional, Gnekow, Astrid, additional, Witt, Olaf, additional, Müller, Hermann L., additional, Calaminus, Gabriele, additional, Fleischhack, Gudrun, additional, Kordes, Uwe, additional, Mynarek, Martin, additional, Rutkowski, Stefan, additional, Frühwald, Michael C., additional, Kramm, Christof M., additional, von Deimling, Andreas, additional, Pietsch, Torsten, additional, Sahm, Felix, additional, Pfister, Stefan M., additional, and Jones, David. T. W., additional

Published
2023
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12. Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions

Author

Stichel, Damian, Schrimpf, Daniel, Casalini, Belén, Meyer, Jochen, Wefers, Annika K., Sievers, Philipp, Korshunov, Andrey, Koelsche, Christian, Reuss, David E., Reinhardt, Annekathrin, Ebrahimi, Azadeh, Fernández-Klett, Francisco, Kessler, Tobias, Sturm, Dominik, Ecker, Jonas, Milde, Till, Herold-Mende, Christel, Witt, Olaf, Pfister, Stefan M., Wick, Wolfgang, Jones, David T. W., von Deimling, Andreas, and Sahm, Felix

Published
2019
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13. Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA

Author

Hou, Yanghao, Pinheiro, Jorge, Sahm, Felix, Reuss, David E., Schrimpf, Daniel, Stichel, Damian, Casalini, Belén, Koelsche, Christian, Sievers, Philipp, Wefers, Annika K., Reinhardt, Annekathrin, Ebrahimi, Azadeh, Fernández-Klett, Francisco, Pusch, Stefan, Meier, Jochen, Schweizer, Leonille, Paulus, Werner, Prinz, Marco, Hartmann, Christian, Plate, Karl H., Reifenberger, Guido, Pietsch, Torsten, Varlet, Pascale, Pagès, Mélanie, Schüller, Ulrich, Scheie, David, de Stricker, Karin, Frank, Stephan, Hench, Jürgen, Pollo, Bianca, Brandner, Sebastian, Unterberg, Andreas, Pfister, Stefan M., Jones, David T. W., Korshunov, Andrey, Wick, Wolfgang, Capper, David, Blümcke, Ingmar, von Deimling, Andreas, and Bertero, Luca

Published
2019
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15. Distribution of EGFR amplification, combined chromosome 7 gain and chromosome 10 loss, and TERT promoter mutation in brain tumors and their potential for the reclassification of IDHwt astrocytoma to glioblastoma

Author

Stichel, Damian, Ebrahimi, Azadeh, Reuss, David, Schrimpf, Daniel, Ono, Takahiro, Shirahata, Mitsuaki, Reifenberger, Guido, Weller, Michael, Hänggi, Daniel, Wick, Wolfgang, Herold-Mende, Christel, Westphal, Manfred, Brandner, Sebastian, Pfister, Stefan M., Capper, David, Sahm, Felix, and von Deimling, Andreas

Published
2018
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16. Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience

Author

Capper, David, Stichel, Damian, Sahm, Felix, Jones, David T. W., Schrimpf, Daniel, Sill, Martin, Schmid, Simone, Hovestadt, Volker, Reuss, David E., Koelsche, Christian, Reinhardt, Annekathrin, Wefers, Annika K., Huang, Kristin, Sievers, Philipp, Ebrahimi, Azadeh, Schöler, Anne, Teichmann, Daniel, Koch, Arend, Hänggi, Daniel, Unterberg, Andreas, Platten, Michael, Wick, Wolfgang, Witt, Olaf, Milde, Till, Korshunov, Andrey, Pfister, Stefan M., and von Deimling, Andreas

Published
2018
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17. Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities

Author

Reinhardt, Annekathrin, Stichel, Damian, Schrimpf, Daniel, Koelsche, Christian, Wefers, Annika K., Ebrahimi, Azadeh, Sievers, Philipp, Huang, Kristin, Casalini, M. Belén, Fernández-Klett, Francisco, Suwala, Abigail, Weller, Michael, Gramatzki, Dorothee, Felsberg, Joerg, Reifenberger, Guido, Becker, Albert, Hans, Volkmar H., Prinz, Marco, Staszewski, Ori, Acker, Till, Dohmen, Hildegard, Hartmann, Christian, Paulus, Werner, Heß, Katharina, Brokinkel, Benjamin, Schittenhelm, Jens, Buslei, Rolf, Deckert, Martina, Mawrin, Christian, Hewer, Ekkehard, Pohl, Ute, Jaunmuktane, Zane, Brandner, Sebastian, Unterberg, Andreas, Hänggi, Daniel, Platten, Michael, Pfister, Stefan M., Wick, Wolfgang, Herold-Mende, Christel, Korshunov, Andrey, Reuss, David E., Sahm, Felix, Jones, David T. W., Capper, David, and von Deimling, Andreas

Published
2019
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20. Anaplastic ganglioglioma—A diagnosis comprising several distinct tumour types

Author

Reinhardt, Annekathrin, primary, Pfister, Kristin, additional, Schrimpf, Daniel, additional, Stichel, Damian, additional, Sahm, Felix, additional, Reuss, David E., additional, Capper, David, additional, Wefers, Annika K., additional, Ebrahimi, Azadeh, additional, Sill, Martin, additional, Felsberg, Joerg, additional, Reifenberger, Guido, additional, Becker, Albert, additional, Prinz, Marco, additional, Staszewski, Ori, additional, Hartmann, Christian, additional, Schittenhelm, Jens, additional, Gramatzki, Dorothee, additional, Weller, Michael, additional, Olar, Adriana, additional, Rushing, Elisabeth Jane, additional, Bergmann, Markus, additional, Farrell, Michael A., additional, Blümcke, Ingmar, additional, Coras, Roland, additional, Beckervordersandforth, Jan, additional, Kim, Se Hoon, additional, Rogerio, Fabio, additional, Dimova, Petia S., additional, Niehusmann, Pitt, additional, Unterberg, Andreas, additional, Platten, Michael, additional, Pfister, Stefan M., additional, Wick, Wolfgang, additional, Herold‐Mende, Christel, additional, and von Deimling, Andreas, additional

Published
2022
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21. Additional file 5 of Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival

Author

Ebrahimi, Azadeh, Korshunov, Andrey, Reifenberger, Guido, Capper, David, Felsberg, Joerg, Trisolini, Elena, Pollo, Bianca, Calatozzolo, Chiara, Prinz, Marco, Staszewski, Ori, Schweizer, Leonille, Schittenhelm, Jens, Harter, Patrick N., Paulus, Werner, Thomas, Christian, Kohlhof-Meinecke, Patricia, Seiz-Rosenhagen, Marcel, Milde, Till, Casalini, Bel��n M., Suwala, Abigail, Wefers, Annika K., Reinhardt, Annekathrin, Sievers, Philipp, Kramm, Christof M., Etminam, Nima, Unterberg, Andreas, Wick, Wolfgang, Herold-Mende, Christel, Sturm, Dominik, Pfister, Stefan M., Sill, Martin, Jones, David T. W., Schrimpf, Daniel, Reuss, David E., Aldape, Ken, Abdullaev, Zied, Sahm, Felix, von Deimling, Andreas, and Stichel, Damian

Abstract

Additional file 5. Histological features observed in pleomorphic xanthoastrocytomas, (a) classical giant pleomorphic cells with multiple nuclei and prominent nucleolus, (b) extensive perivascular inflammatory infiltrates, (c) endothelial proliferations, (d) extensive myxoid matrix, (e) pseudopalisading necrosis, (f) pseudopapillary growth pattern, (g) biphasic pattern with spindle cell component and giant pleomorphic cell component, (h) extensive calcification, (i) small round blue cell morphology, (j) a thrombosed vessel; all depicted tumors had a maximum calibrated score above 0.9 for mcPXA; Supplementary figure 2 Overall survival (Kaplan-Meier curve) of patients in cohort mcPXA stratified after initial histological diagnosis (a) and BRAF V600E status (b); Supplementary figure 3 Typical copy number profile of mcPXA (upper panel) compared to that of mcGBM (lower panel); Supplementary figure 4 Copy number summary of cohort mcPXA altogether and stratified after WHO grade; Supplementary figure 5: The composition of cohorts histPXA and mcPXA, (a) 220 mcPXA cases with their histological composition, (b) 144 histPXA cases with their methylation class assignments (v11b4).

Published
2022
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22. Additional file 3 of Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival

Author

Ebrahimi, Azadeh, Korshunov, Andrey, Reifenberger, Guido, Capper, David, Felsberg, Joerg, Trisolini, Elena, Pollo, Bianca, Calatozzolo, Chiara, Prinz, Marco, Staszewski, Ori, Schweizer, Leonille, Schittenhelm, Jens, Harter, Patrick N., Paulus, Werner, Thomas, Christian, Kohlhof-Meinecke, Patricia, Seiz-Rosenhagen, Marcel, Milde, Till, Casalini, Bel��n M., Suwala, Abigail, Wefers, Annika K., Reinhardt, Annekathrin, Sievers, Philipp, Kramm, Christof M., Etminam, Nima, Unterberg, Andreas, Wick, Wolfgang, Herold-Mende, Christel, Sturm, Dominik, Pfister, Stefan M., Sill, Martin, Jones, David T. W., Schrimpf, Daniel, Reuss, David E., Aldape, Ken, Abdullaev, Zied, Sahm, Felix, von Deimling, Andreas, and Stichel, Damian

Abstract

Additional file 3. Composition of cohorts mcPXA and histPXA in numbers.

Published
2022
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23. Additional file 6 of Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival

Author

Ebrahimi, Azadeh, Korshunov, Andrey, Reifenberger, Guido, Capper, David, Felsberg, Joerg, Trisolini, Elena, Pollo, Bianca, Calatozzolo, Chiara, Prinz, Marco, Staszewski, Ori, Schweizer, Leonille, Schittenhelm, Jens, Harter, Patrick N., Paulus, Werner, Thomas, Christian, Kohlhof-Meinecke, Patricia, Seiz-Rosenhagen, Marcel, Milde, Till, Casalini, Bel��n M., Suwala, Abigail, Wefers, Annika K., Reinhardt, Annekathrin, Sievers, Philipp, Kramm, Christof M., Etminam, Nima, Unterberg, Andreas, Wick, Wolfgang, Herold-Mende, Christel, Sturm, Dominik, Pfister, Stefan M., Sill, Martin, Jones, David T. W., Schrimpf, Daniel, Reuss, David E., Aldape, Ken, Abdullaev, Zied, Sahm, Felix, von Deimling, Andreas, and Stichel, Damian

Subjects
TheoryofComputation_MATHEMATICALLOGICANDFORMALLANGUAGES, ComputingMethodologies_SYMBOLICANDALGEBRAICMANIPULATION, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Data_FILES, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
Abstract

Additional file 6. List of abbreviations.

Published
2022
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24. Additional file 4 of Pleomorphic xanthoastrocytoma is a heterogeneous entity with pTERT mutations prognosticating shorter survival

Author

Ebrahimi, Azadeh, Korshunov, Andrey, Reifenberger, Guido, Capper, David, Felsberg, Joerg, Trisolini, Elena, Pollo, Bianca, Calatozzolo, Chiara, Prinz, Marco, Staszewski, Ori, Schweizer, Leonille, Schittenhelm, Jens, Harter, Patrick N., Paulus, Werner, Thomas, Christian, Kohlhof-Meinecke, Patricia, Seiz-Rosenhagen, Marcel, Milde, Till, Casalini, Bel��n M., Suwala, Abigail, Wefers, Annika K., Reinhardt, Annekathrin, Sievers, Philipp, Kramm, Christof M., Etminam, Nima, Unterberg, Andreas, Wick, Wolfgang, Herold-Mende, Christel, Sturm, Dominik, Pfister, Stefan M., Sill, Martin, Jones, David T. W., Schrimpf, Daniel, Reuss, David E., Aldape, Ken, Abdullaev, Zied, Sahm, Felix, von Deimling, Andreas, and Stichel, Damian

Abstract

Additional file 4. tSNE plot of histPXA cases with the set of reference samples underlying the classifier version v11b4; ���histPXA a��� represents cases with a calibrated score less than 0.9 in v11b4 classifier, ���histPXA b��� represents cases with a calibrated score of 0.9 or higher in v11b4 classifier.

Published
2022
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27. Sarcoma classification by DNA methylation profiling

Author

National Center for Tumor Diseases (Germany), German Cancer Aid, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), Medical Research Council (UK), Brain Archive Information Network (UK), Brain Tumour Research, Friedberg Charitable Foundation, Fonds National de la Recherche Luxembourg, Projekt DEAL, Koelsche, Christian, Schrimpf, Daniel, Stichel, Damian, Sill, Martin, Sahm, Felix, Reuss, David E., Blattner, Mirjam, Worst, Barbara, Heilig, Christoph E., Beck, Katja, Horak, Peter, Brandner, Sebastian, Jaunmuktane, Zane, Lyskjær, Iben, Schirmacher, Peter, Stenzinger, Albrecht, Brors, Benedikt, Glimm, Hanno, Heining, Christoph, Tirado, Óscar M., Sáinz-Jaspeado, Miguel, Alonso, Javier, Mora, Jaume, García del Muro, Xavier, Morán, Sebastián, Esteller, Manel, Benhamida, Jamal K., Ladanyi, Marc, Wardelmann, Eva, Antonescu, Cristina R., Flanagan, Adrienne, Dirksen, Uta, Baumhoer, Daniel, Hohenberger, Peter, Hartmann, Wolfgang, Vokuhl, Christian, Flucke, Uta, Petersen, Iver, Mechtersheimer, Gunhild, Capper, David, Jones, David T. W., Fröhling, Stefan, Pfister, Stefan M., Kreutzfeldt, Simon, von Deimling, Andreas, Paff, Elke, Stark, Sebastian, Johann, Pascal, Selt, Florian, Ecker, Jonas, Sturm, Dominik, Pajtler, Kristian W., Reinhardt, Annekathrin, Wefers, Annika K., Sievers, Philipp, Ebrahimi, Azadeh, Suwala, Abigail, Fernández-Klett, Francisco, Casalini, Belén, Korshunov, Andrey, Hovestadt, Volker, Kommoss, Felix K. F., Kriegsmann, Mark, Schick, Matthias, Bewerunge-Hudler, Melanie, Milde, Till, Witt, Olaf, Kulozik, Andreas E., Kool, Marcel, Romero-Pérez, Laura, Grünewald, Thomas G. P., Kirchner, Thomas, Wick, Wolfgang, Platten, Michael, Unterberg, Andreas, Uhl, Matthias, Abdollahi, Amir, Debus, Jürgen, Lehner, Burkhard, Thomas, Christian, Hasselblatt, Martin, Paulus, Werner, Hartmann, Christian, Staszewski, Ori, Prinz, Marco, Hench, Jürgen, Frank, Stephan, Versleijen-Jonkers, Yvonne M. H., Weidema, Marije E., Mentzel, Thomas, Griewank, Klaus, Álava, Enrique de, Díaz-Martín, J., Idoate Gastearena, Miguel A., Tou-En Chang, Kenneth, Yee, Sharon Yin, Cuevas-Bourdier, Adrian, Mittelbronn, Michel, Mynarek, Martin, Rutkowski, Stefan, Schüller, Ulrich, Mautner, Viktor F., Schittenhelm, Jens, Serrano, Jonathan, Snuderl, Matija, Büttner, Reinhard, Klingebiel, Thomas, Buslei, Rolf, Gessler, Manfred, Wesseling, Pieter, Dinjens, Winand N. M., National Center for Tumor Diseases (Germany), German Cancer Aid, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), Medical Research Council (UK), Brain Archive Information Network (UK), Brain Tumour Research, Friedberg Charitable Foundation, Fonds National de la Recherche Luxembourg, Projekt DEAL, Koelsche, Christian, Schrimpf, Daniel, Stichel, Damian, Sill, Martin, Sahm, Felix, Reuss, David E., Blattner, Mirjam, Worst, Barbara, Heilig, Christoph E., Beck, Katja, Horak, Peter, Brandner, Sebastian, Jaunmuktane, Zane, Lyskjær, Iben, Schirmacher, Peter, Stenzinger, Albrecht, Brors, Benedikt, Glimm, Hanno, Heining, Christoph, Tirado, Óscar M., Sáinz-Jaspeado, Miguel, Alonso, Javier, Mora, Jaume, García del Muro, Xavier, Morán, Sebastián, Esteller, Manel, Benhamida, Jamal K., Ladanyi, Marc, Wardelmann, Eva, Antonescu, Cristina R., Flanagan, Adrienne, Dirksen, Uta, Baumhoer, Daniel, Hohenberger, Peter, Hartmann, Wolfgang, Vokuhl, Christian, Flucke, Uta, Petersen, Iver, Mechtersheimer, Gunhild, Capper, David, Jones, David T. W., Fröhling, Stefan, Pfister, Stefan M., Kreutzfeldt, Simon, von Deimling, Andreas, Paff, Elke, Stark, Sebastian, Johann, Pascal, Selt, Florian, Ecker, Jonas, Sturm, Dominik, Pajtler, Kristian W., Reinhardt, Annekathrin, Wefers, Annika K., Sievers, Philipp, Ebrahimi, Azadeh, Suwala, Abigail, Fernández-Klett, Francisco, Casalini, Belén, Korshunov, Andrey, Hovestadt, Volker, Kommoss, Felix K. F., Kriegsmann, Mark, Schick, Matthias, Bewerunge-Hudler, Melanie, Milde, Till, Witt, Olaf, Kulozik, Andreas E., Kool, Marcel, Romero-Pérez, Laura, Grünewald, Thomas G. P., Kirchner, Thomas, Wick, Wolfgang, Platten, Michael, Unterberg, Andreas, Uhl, Matthias, Abdollahi, Amir, Debus, Jürgen, Lehner, Burkhard, Thomas, Christian, Hasselblatt, Martin, Paulus, Werner, Hartmann, Christian, Staszewski, Ori, Prinz, Marco, Hench, Jürgen, Frank, Stephan, Versleijen-Jonkers, Yvonne M. H., Weidema, Marije E., Mentzel, Thomas, Griewank, Klaus, Álava, Enrique de, Díaz-Martín, J., Idoate Gastearena, Miguel A., Tou-En Chang, Kenneth, Yee, Sharon Yin, Cuevas-Bourdier, Adrian, Mittelbronn, Michel, Mynarek, Martin, Rutkowski, Stefan, Schüller, Ulrich, Mautner, Viktor F., Schittenhelm, Jens, Serrano, Jonathan, Snuderl, Matija, Büttner, Reinhard, Klingebiel, Thomas, Buslei, Rolf, Gessler, Manfred, Wesseling, Pieter, and Dinjens, Winand N. M.

Abstract

Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. Therefore, the diagnosis of sarcomas is burdened with a high inter-observer variability and misclassification rate. Here, we demonstrate classification of soft tissue and bone tumours using a machine learning classifier algorithm based on array-generated DNA methylation data. This sarcoma classifier is trained using a dataset of 1077 methylation profiles from comprehensively pre-characterized cases comprising 62 tumour methylation classes constituting a broad range of soft tissue and bone sarcoma subtypes across the entire age spectrum. The performance is validated in a cohort of 428 sarcomatous tumours, of which 322 cases were classified by the sarcoma classifier. Our results demonstrate the potential of the DNA methylation-based sarcoma classification for research and future diagnostic applications.

Published
2021

31. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

Author

Wefers, Annika K., primary, Stichel, Damian, additional, Schrimpf, Daniel, additional, Coras, Roland, additional, Pages, Mélanie, additional, Tauziède-Espariat, Arnault, additional, Varlet, Pascale, additional, Schwarz, Daniel, additional, Söylemezoglu, Figen, additional, Pohl, Ute, additional, Pimentel, José, additional, Meyer, Jochen, additional, Hewer, Ekkehard, additional, Japp, Anna, additional, Joshi, Abhijit, additional, Reuss, David E., additional, Reinhardt, Annekathrin, additional, Sievers, Philipp, additional, Casalini, M. Belén, additional, Ebrahimi, Azadeh, additional, Huang, Kristin, additional, Koelsche, Christian, additional, Low, Hu Liang, additional, Rebelo, Olinda, additional, Marnoto, Dina, additional, Becker, Albert J., additional, Staszewski, Ori, additional, Mittelbronn, Michel, additional, Hasselblatt, Martin, additional, Schittenhelm, Jens, additional, Cheesman, Edmund, additional, de Oliveira, Ricardo Santos, additional, Queiroz, Rosane Gomes P., additional, Valera, Elvis Terci, additional, Hans, Volkmar H., additional, Korshunov, Andrey, additional, Olar, Adriana, additional, Ligon, Keith L., additional, Pfister, Stefan M., additional, Jaunmuktane, Zane, additional, Brandner, Sebastian, additional, Tatevossian, Ruth G., additional, Ellison, David W., additional, Jacques, Thomas S., additional, Honavar, Mrinalini, additional, Aronica, Eleonora, additional, Thom, Maria, additional, Sahm, Felix, additional, von Deimling, Andreas, additional, Jones, David T. W., additional, Blumcke, Ingmar, additional, and Capper, David, additional

Published
2019
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32. FGFR1:TACC1 fusion is a frequent event in molecularly defined extraventricular neurocytoma

Author

Sievers, Philipp, primary, Stichel, Damian, additional, Schrimpf, Daniel, additional, Sahm, Felix, additional, Koelsche, Christian, additional, Reuss, David E., additional, Wefers, Annika K., additional, Reinhardt, Annekathrin, additional, Huang, Kristin, additional, Ebrahimi, Azadeh, additional, Hou, Yanghao, additional, Pajtler, Kristian W., additional, Pfister, Stefan M., additional, Hasselblatt, Martin, additional, Stummer, Walter, additional, Schick, Uta, additional, Hartmann, Christian, additional, Hagel, Christian, additional, Staszewski, Ori, additional, Reifenberger, Guido, additional, Beschorner, Rudi, additional, Coras, Roland, additional, Keyvani, Kathy, additional, Kohlhof, Patricia, additional, Diomedi-Camassei, Francesca, additional, Herold-Mende, Christel, additional, Giangaspero, Felice, additional, Rushing, Elisabeth, additional, Giannini, Caterina, additional, Korshunov, Andrey, additional, Jones, David T. W., additional, and von Deimling, Andreas, additional

Published
2018
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33. ATRX immunostaining predicts IDH and H3F3A status in gliomas

Author

Ebrahimi, Azadeh, Skardelly, Marco, Bonzheim, Irina, Ott, Ines, Mühleisen, Helmut, Eckert, Franziska, Tabatabai, Ghazaleh, and Schittenhelm, Jens

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Introduction: Recent studies on diffuse gliomas have shown frequent alterations in the α-thalassemia/mental-retardation-syndrome-X-linked gene (ATRX). Objectives: Validation of an interobserver-reliant cutoff to determine nuclear ATRX loss is necessary. The reliability of ATRX in predicting[for full text, please go to the a.m. URL], Joint-Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN) and the Scandinavian Neuropathological Society (SNS)

Published
2016
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34. Dyspnoe und Leistungsminderung mit unerwartetem Ausgang

Author

Seizer, Peter, additional, Rockenstiehl, Michaela, additional, Fateh-Moghadam, Suzanne, additional, Haen, Susanne, additional, Artunc, Ferruh, additional, Müller, Martin, additional, Ebrahimi, Azadeh, additional, Riessen, Reimer, additional, Gawaz, Meinrad, additional, Fend, Falko, additional, and Haap, Michael, additional

Published
2016
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36. Muster der Histon-Azetylierung als Ziele für neue therapeutische Ansätze bei neurologischen Erkrankungen

Author

Ebrahimi, Azadeh and Schluesener, Hermann (Prof.Dr.)

Subjects
Histone acetylation , Epigenetics , Neurodegeneration , Brain Tumor, Histone , Hirntumor
Abstract

Neurological diseases, in particular brain tumors and neurodegenerative disorders, cause significant socio-economic burdens on societies. Exploring epigenetic mechanisms in neurological disorders in recent decades has been an emerging tool for describing the pathogenesis of neurological diseases as well as developing new therapeutics. Global histone acetylation is an epigenetic entity whose alternating patterns in various neurological diseases have recently raised special attention concerning its potency for therapeutic development. I investigated patterns of global histone 3 lysine 9 acetylation (H3K9Ac) in various brain tumors and neurodegenerative animal models, such as APPPS1-21 mice model of Alzheimer’s disease (AD), in order to find out the relevance of this target to clinical outcome of the disease and it potency as a target for therapeutic development. I also tried to find out whether natural products with promising neuroprotective effects in preclinical studies affect H3K9Ac status of the nuclei in the studied models. In the present study, it was shown that H3K9Ac levels change variably in different brain diseases including benign and malignant tumors as well as neurodegenerative conditions such as AD. In brain tumors, the global H3K9Ac alterations were correlated to the degree of malignancy and disease aggressive behavior. Regarding neurodegenerative conditions, an aberration of H3K9Ac profile in APPPS1-21 transgenic mice was reported, which was reversed after MS-275 treatment. Likewise, therapeutic effect of valproic acid on experimental autoimmune encephalomyelitis rats was associated with increased H3K9Ac of brain cells. According to the results of in vitro study, typical histone deacetylator enzyme (HDAC) modifiers, either selective or non-selective, did not change H3K9Ac patterns despite revealing antioxidative effects, suggesting alternative mechanisms, such as alteration of acetylation in non-histone proteins or modification of other pathways. Similarly, icariin, a natural substance with SIRT-1 modifying and neuroprotective activity, could not change the H3K9Ac profile of APPPS1-21 mice brain although it revealed anti-amyloid pathology effects. We conclude that H3K9 acetylation is a relevant target in the studied brain diseases and alternative mechanisms might be involved in neuroprotective action of both polyphenol and non-polyphenol HDAC modifiers. Neurologische Erkrankungen, insbesondere Gehirntumore und neurodegenerative Erkrankungen, verursachen erhebliche sozioökonomische Belastungen für die Gesellschaft. Die Analyse epigenetischer Mechanismen neurologischer Erkrankungen eröffnet neue Methoden zur Untersuchung der Pathogenese und Therapie.. In der vorliegenden Studie wurde gezeigt, dass die histologischen Muster der zellulären H3K9 Azetylierung bei bestimmten Pathologien des Zentralen Nervensystems, wie malignen oder benignen Hirntumoren oder auch neurodegenerativen Prozessen, wie der Alzheimer’schen Krankheit, von klinischer Bedeutung sind.. Wir schließen daraus, dass die H3K9 Azetylierung ein relevantes diagnostisches Kriterium und auch ein Ziel für die Entwicklung therapeutischer Strategien ist. Insbesondere Polyphenole und nicht-polyphenolischen HDAC Modifikatoren haben in dieser Hinsicht großes Potenzial.

Published
2013

44. A Rare Presentation of Childhood Burkitt's Lymphoma with Tense Ascites, Massive Pleural Effusion and Abdominal Mass.

Author

Sirous, Mehri and Ebrahimi, Azadeh

Subjects
*BURKITT'S lymphoma, *LYMPHATIC tumors, *PLEURAL effusions, *ABDOMINAL aortic aneurysms
Abstract

Burkitt's lymphoma is a lymphatic tumor classified as non-Hodgkin lymphoma with small non cleaved cells. The disease has an incidence of two cases per million patients in North America, and usually present with an intra-abdominal tumor, or enlarged cervical lymph nodes. Massive amounts of peritoneal and plural fluid is rarely seen in these patients. A three year-old girl presented with massive pleural effusion, ascites, mesenteric infiltration, and intraperitoneal mass is discussed in this report. Burkitt's lymphoma is a highly aggressive tumor with a very rapid growth and a variety of different presentations. It is potentially curable, if highly intensive multidrug chemotherapy is used with aggressive central nervous system prophylaxis. [ABSTRACT FROM AUTHOR]

Published
2009

45. Reference on copy number variations in pleomorphic xanthoastrocytoma: Implications for diagnostic approach.

Author

Reuss DE, Schrimpf D, Stichel D, Ebrahimi A, Dampier C, Aldape K, Snuderl M, Capper D, Sill M, Jones DTW, Pfister SM, Sahm F, and von Deimling A

Abstract

Pleomorphic xanthoastrocytoma (PXA) poses a diagnostic challenge. The present study relies on methylation-based predictions and focuses on copy number variations (CNV) in PXA. We identified 551 tumors from patients having received the histologic diagnosis or differential diagnosis pleomorphic xanthoastrocytoma (PXA) uploaded to the web page www.molecularneuropathology.org. Of these 551 tumors, 165 received the prediction "methylation class (anaplastic) pleomorphic xanthoastrocytoma" with a calibrated score >=0.9 by the brain tumor classifier version v12.8 and, therefore, were defined the PXA reference set designated mcPXAref. In addition to these 165 mcPXAref, 767 other tumors received the prediction mcPXA with a calibrated score >=0.9 but without a histological PXA diagnosis. The total number of individual tumors predicted by histology and/or by methylome based classification as PXA, mcPXA or both was 1318, and these were designated the study cohort. The selection of a control cohort was guided by methylation-based predictions recurrently observed for the other 386/551 tumors diagnosed as histologic PXA. 131/386 received predictions for another entity besides PXA with a score >=0.9. Control tumors corresponding to the 11 most common other predictions were selected, adding up to 1100 reference cases. CNV profiles were calculated from all methylation datasets of the study and control cohorts. Special attention was given to the 7/10 signature, gene amplifications and homozygous deletion of CDKN2A/B. Comparison of CNV in the subsets of the study cohort and the control cohort were used to establish relations independent of histological diagnoses. Tumors in mcPXA were highly homogenous in regard to CNV alterations, irrespective of the histological diagnoses. The 7/10 signature commonly present in glioblastoma, IDH-wildtype, was present in 15-20% of mcPXA, whereas amplification of oncogenes (likewise common in glioblastoma) was very rare in mcPXA (<1%). In contrast, the histology-based PXA group exhibited high variance in regard to methylation classes as well as to CNVs. Our data add to the notion, that histologically defined PXA likely only represent a subset of the biological disease.

Published
2023
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46. [An unexpected cause of dyspnea and degradation of performance].

Author

Seizer P, Rockenstiehl M, Fateh-Moghadam S, Haen S, Artunc F, Müller MR, Ebrahimi A, Riessen R, Gawaz M, Fend F, and Haap M

Subjects
Fatal Outcome, Humans, Male, Middle Aged, Abscess, Aortic Valve Insufficiency, Dyspnea etiology, Endocarditis, Bacterial, Kidney Diseases
Abstract

History and Admission Findings: A 55-year old man suffers from progressive, distinctive dyspnoea and physical weakness since 5 days. Due to ST-segment changes in the ECG and a positive troponin-test, the primary care physician initiates an hospitalization., Investigations: After admission, the laboratory tests confirm the elevated troponin-values, and show additionally elevated pro-brain-natriuric-peptide-values. The coronary angiography presents a highly reduced left ventricular function, an aortic insufficiency III° and a coronary heart disease., Diagnosis, Treatment and Course: After clinical deterioration and fever up to 42°C with consecutive tachycardia, the patient is taken over to the intensive care unit. Blood cultures are taken and an empirical antibiotic treatment is started. The patient dies within a few hours in catecholamine refractory circulatory failure. In the autopsy we find signs of an acute recurrent bacterial aortic valve endocarditis with a paravalvular abscess in the myocardium and a septic abscess in the left kidney. The patient died on acute left ventricular failure., Discussion: The manifestation of an endocarditis can be presented very variable and can thus be a challenge in clinical practice. For one thing, the disease presents as an acute, rapidly progressive infection, on the other hand it acts as subacute or chronic disease with just little fever and nonspecific symptoms. To initiate an adequate therapy without loss of time, endocarditis should be included in the differential diagnosis where the risk profile is evident. There are risk factors (poor dental status, intravenous drug use, artificial valve or cardiological devices) for endocarditis. These risk factors with additional symptoms should always be given to a further diagnostics to detect an endocarditis. In addition to a multiple cultivation and laboratory analysis additional diagnostics such as ECG, echocardiography (transthoracic, transthoracic) and chest X-ray should be performed. Further stratification of patients is then performed using the modified Duke criteria. The anti-infective therapy is carried out using the new ESC Guidelines (2015). If a surgical procedure is indicated, this should be done in close consultation with the colleagues of Thoracic and Cardiovascular Surgery., (© Georg Thieme Verlag KG Stuttgart · New York.)

Published
2016
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47. Antimicrobial peptides in the brain: neuropeptides and amyloid.

Author

Schluesener HJ, Su Y, Ebrahimi A, and Pouladsaz D

Subjects
Humans, Amyloid physiology, Antimicrobial Cationic Peptides physiology, Brain physiology, Neuropeptides physiology
Abstract

Antimicrobial peptides (AMPs) are ancient defense molecules of the innate immune system. Similarly, neuropeptides are ancient signaling molecules. Similarities in size, cationic charge or amphipatic design between some neuropeptides and AMPs suggest that they might serve an additional function in antimicrobial immunity. This hypothesis, supported by experimental evidence, adds another level of understanding to the intricate crosstalk between the nervous system and the immune system. The recent observation, that another brain protein, amyloid-beta, has antimicrobial activities, suggests that this peptide, prominently known as an accumulating toxic waste material, might have a physiologic function as anti-infective agent.

Published
2012
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48. Television-provoked epilepsy in children: a follow-up survey from Isfahan, Iran.

Author

Etemadifar M, Raoufi M, Maghzi AH, Ebrahimi A, Kaji-Esfahani M, and Mousavi SA

Subjects
Anticonvulsants therapeutic use, Carbamazepine therapeutic use, Child, Electroencephalography, Epilepsy, Reflex diagnosis, Female, Follow-Up Studies, Health Surveys, Humans, Iran, Male, Treatment Outcome, Valproic Acid therapeutic use, Epilepsy, Reflex drug therapy, Epilepsy, Reflex etiology, Photic Stimulation adverse effects, Photic Stimulation instrumentation, Television
Abstract

Background: Television as an external stimulation can precipitate epileptic seizures. Today this kind of epilepsy is known as television epilepsy. As children spend much of their time watching television, it is important to study this type of epilepsy in this age group. This study was designed to describe the clinical and some demographic characteristics of television epilepsy in Iranian children., Methods: Patients who were diagnosed as having television epilepsy with an age less than 12 years were recruited from outpatient neurology clinics in Isfahan, Iran, from September 2002 through September 2006. We collected the case-related information including electroencephalograms, radiologic findings, and patients' history., Results: Thirty patients with television epilepsy with the age less than 12 years were identified. Of whom 17 (56.7%) were females and 13 (43.3%) were males. The mean age at the onset of seizure was 9.9+/-2.1 years. Children had absence (3.3%), myoclonic (3.3%), and generalized tonic-clonic (93.3+/-) seizures in response to intermittent photic stimulations. Interictal epileptiform discharges in electroencephalograms were detected in 83.3%. In addition, neuroimaging findings were normal in 96.7% of the patients. In our study, 56.7% of the children had pure television epilepsy and 43.3% experienced other types of generalized seizure. During the follow-up period after initiation of variable drug treatments including valproic acid, carbamazepine, phenobarbital, clonazepam, ethosuximide, and lamotrigine all the patients had complete seizure remission., Conclusion: The clinical and demographic differences of our patients compared with other reports are probably due to genetic differences. In our study, it was demonstrated that carbamazepine could be used in children with television epilepsy because it had successfully terminated seizures in 43.3% of the patients.

Published
2008

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