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1. MR Imaging and Clinical Characteristics of Diffuse Glioneuronal Tumor with Oligodendroglioma-like Features and Nuclear Clusters

Author

Benesch, M., primary, Perwein, T., additional, Apfaltrer, G., additional, Langer, T., additional, Neumann, A., additional, Brecht, I.B., additional, Schuhmann, M.U., additional, Cario, H., additional, Frühwald, M.C., additional, Vollert, K., additional, van Buiren, M., additional, Deng, M.Y., additional, Seitz, A., additional, Haberler, C., additional, Mynarek, M., additional, Kramm, C., additional, Sahm, F., additional, Robe, P.A., additional, Dankbaar, J.W., additional, Hoff, K.V., additional, Warmuth-Metz, M., additional, and Bison, B., additional

Published
2022
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2. P14.04.A TrackingTERTpromoter andIDH1mutations in liquid biopsies - suitable biomarkers for disease monitoring in glioma patients?

Author

Bruckner, K, primary, Madlener, S, additional, Lang, A, additional, Kiesel, B, additional, Furtner-Srajer, J, additional, Hainfellner, J, additional, Haberler, C, additional, Spiegl-Kreinecker, S, additional, Dorfer, C, additional, Slavc, I, additional, Gojo, J, additional, Rössler, K, additional, and Lötsch-Gojo, D, additional

Published
2022
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3. JS04.6.A The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location

Author

Liu, I, primary, Jiang, L, additional, Samuelsson, E, additional, Marco Salas, S, additional, Hack, O, additional, Jeong, D, additional, Shaw, M, additional, Englinger, B, additional, LaBelle, J, additional, Ernst, K, additional, Palova, H, additional, Pokorna, P, additional, Sterba, J, additional, Slaby, O, additional, Geyeregger, R, additional, Jones, D, additional, Koschmann, C, additional, Svedlund, J, additional, Resnick, A, additional, Diaz, A, additional, Haberler, C, additional, Czech, T, additional, Slavc, I, additional, Cotter, J, additional, Ligon, K, additional, Alexandrescu, S, additional, Yung, W, additional, Arrillaga-Romany, I, additional, Suva, M, additional, Beck, A, additional, Gojo, J, additional, Monje, M, additional, Nilsson, M, additional, and Filbin, M, additional

Published
2022
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4. ETMR-06. Molecular and clinical characteristics of CNS tumors withBCOR(L1) fusion/internal tandem duplication

Author

Gojo, J, Schmitt-Hoffner, F, Mauermann, M, von Hoff, K, Sill, M, Korshunov, A, Stichel, D, Capper, D, Tauziede-Espariat, A, Varlet, P, Aldape, K, Abdullaev, Z, Donson, A, Pahnke, J, Schüller, U, Tran, I, Galbraith, K, Snuderl, M, Alexandrescu, S, Brandner, S, Łastowska, M, Miele, E, Lugt, JV, Meijer, L, Bunt, J, Kramm, C, Hansford, JR, Krskova, L, Zapotocky, M, Nobusawa, S, Solomon, D, Haberler, C, Jones, B, Sturm, D, Sahm, F, Jäger, N, Pfister, SM, Kool, M, Gojo, J, Schmitt-Hoffner, F, Mauermann, M, von Hoff, K, Sill, M, Korshunov, A, Stichel, D, Capper, D, Tauziede-Espariat, A, Varlet, P, Aldape, K, Abdullaev, Z, Donson, A, Pahnke, J, Schüller, U, Tran, I, Galbraith, K, Snuderl, M, Alexandrescu, S, Brandner, S, Łastowska, M, Miele, E, Lugt, JV, Meijer, L, Bunt, J, Kramm, C, Hansford, JR, Krskova, L, Zapotocky, M, Nobusawa, S, Solomon, D, Haberler, C, Jones, B, Sturm, D, Sahm, F, Jäger, N, Pfister, SM, and Kool, M

Abstract

Central nervous system (CNS) tumor with BCOR internal tandem duplication (BCOR-ITD) have recently been introduced in the 5th edition of the WHO classification of CNS tumors, however, their molecular makeup and clinical characteristics remain widely enigmatic. This is further complicated by the recent discovery of tumors characterized by gene fusions involving BCOR or its homologue BCORL1. We identified a cohort of 206 BCOR altered CNS tumors via DNA methylation profiling and conducted in-depth molecular and clinical characterization in an international effort. By performing t-SNE clustering analysis we found that BCOR-fusion tumors form a distinct cluster (n=61), adjacent to BCOR-ITD cases (n=145). The identified fusion partners of BCOR(L1) included EP300 (n=20), CREBBP (n=5), and NUTM2HP (n=1). Notably, three cases within the BCOR-ITD cluster harbored a c-terminal intragenic deletion within BCOR. With respect to clinical characteristics gender ratio was balanced in BCOR-fusion cases (m/f, 1.1), whereas predominance of male patients was observed in the BCOR-ITD group (m/f, 1.5). Moreover, age at diagnosis of BCOR-fusion patients was higher as compared to BCOR-ITD cases (15 vs 4.5 years). Interestingly, BCOR-fusion tumors were exclusively found in the supratentorial region being originally diagnosed as ependymomas or gliomas whereas BCOR-ITD emerged across the entire CNS with diverse original diagnoses. 8% of BCOR-ITD and none of BCOR-fusion cases were disseminated at diagnosis. In line with this observation, 40% of first relapses within the BCOR-ITD group were metastatic which was less frequent in BCOR-fusion tumors. Survival estimates demonstrated no differences, generally showing short median PFS (BCOR-fusion, 2 years, n=15; BCOR-ITD, 1.8 years, n=55) and intermediate OS rates (BCOR-fusion, 6.8 years, n=18; BCOR-ITD 6.3 years, n=60). Further molecular and clinical characterization is ongoing potentially revealing first therapeutic leads for these highly a

Published
2022

5. MR Imaging and Clinical Characteristics of Diffuse Glioneuronal Tumor with Oligodendroglioma-like Features and Nuclear Clusters

Author

Neurochirurgie, Brain, Cancer, MS Radiologie, Circulatory Health, Benesch, M, Perwein, T, Apfaltrer, G, Langer, T, Neumann, A, Brecht, I B, Schuhmann, M U, Cario, H, Frühwald, M C, Vollert, K, van Buiren, M, Deng, M Y, Seitz, A, Haberler, C, Mynarek, M, Kramm, C, Sahm, F, Robe, P A, Dankbaar, J W, Hoff, K V, Warmuth-Metz, M, Bison, B, Neurochirurgie, Brain, Cancer, MS Radiologie, Circulatory Health, Benesch, M, Perwein, T, Apfaltrer, G, Langer, T, Neumann, A, Brecht, I B, Schuhmann, M U, Cario, H, Frühwald, M C, Vollert, K, van Buiren, M, Deng, M Y, Seitz, A, Haberler, C, Mynarek, M, Kramm, C, Sahm, F, Robe, P A, Dankbaar, J W, Hoff, K V, Warmuth-Metz, M, and Bison, B

Published
2022

6. PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

Author

Alhalabi, K.T. Stichel, D. Sievers, P. Peterziel, H. Sommerkamp, A.C. Sturm, D. Wittmann, A. Sill, M. Jäger, N. Beck, P. Pajtler, K.W. Snuderl, M. Jour, G. Delorenzo, M. Martin, A.M. Levy, A. Dalvi, N. Hansford, J.R. Gottardo, N.G. Uro-Coste, E. Maurage, C.-A. Godfraind, C. Vandenbos, F. Pietsch, T. Kramm, C. Filippidou, M. Kattamis, A. Jones, C. Øra, I. Mikkelsen, T.S. Zapotocky, M. Sumerauer, D. Scheie, D. McCabe, M. Wesseling, P. Tops, B.B.J. Kranendonk, M.E.G. Karajannis, M.A. Bouvier, N. Papaemmanuil, E. Dohmen, H. Acker, T. von Hoff, K. Schmid, S. Miele, E. Filipski, K. Kitanovski, L. Krskova, L. Gojo, J. Haberler, C. Alvaro, F. Ecker, J. Selt, F. Milde, T. Witt, O. Oehme, I. Kool, M. von Deimling, A. Korshunov, A. Pfister, S.M. Sahm, F. Jones, D.T.W.

Abstract

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens. © 2021, The Author(s).

Published
2021

7. PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

Author

Alhalabi, KT, Stichel, D, Sievers, P, Peterziel, H, Sommerkamp, AC, Sturm, D, Wittmann, A, Sill, M, Jaeger, N, Beck, P, Pajtler, KW, Snuderl, M, Jour, G, Delorenzo, M, Martin, AM, Levy, A, Dalvi, N, Hansford, JR, Gottardo, NG, Uro-Coste, E, Maurage, C-A, Godfraind, C, Vandenbos, F, Pietsch, T, Kramm, C, Filippidou, M, Kattamis, A, Jones, C, Ora, I, Mikkelsen, TS, Zapotocky, M, Sumerauer, D, Scheie, D, McCabe, M, Wesseling, P, Tops, BBJ, Kranendonk, MEG, Karajannis, MA, Bouvier, N, Papaemmanuil, E, Dohmen, H, Acker, T, von Hoff, K, Schmid, S, Miele, E, Filipski, K, Kitanovski, L, Krskova, L, Gojo, J, Haberler, C, Alvaro, F, Ecker, J, Selt, F, Milde, T, Witt, O, Oehme, I, Kool, M, von Deimling, A, Korshunov, A, Pfister, SM, Sahm, F, Jones, DTW, Alhalabi, KT, Stichel, D, Sievers, P, Peterziel, H, Sommerkamp, AC, Sturm, D, Wittmann, A, Sill, M, Jaeger, N, Beck, P, Pajtler, KW, Snuderl, M, Jour, G, Delorenzo, M, Martin, AM, Levy, A, Dalvi, N, Hansford, JR, Gottardo, NG, Uro-Coste, E, Maurage, C-A, Godfraind, C, Vandenbos, F, Pietsch, T, Kramm, C, Filippidou, M, Kattamis, A, Jones, C, Ora, I, Mikkelsen, TS, Zapotocky, M, Sumerauer, D, Scheie, D, McCabe, M, Wesseling, P, Tops, BBJ, Kranendonk, MEG, Karajannis, MA, Bouvier, N, Papaemmanuil, E, Dohmen, H, Acker, T, von Hoff, K, Schmid, S, Miele, E, Filipski, K, Kitanovski, L, Krskova, L, Gojo, J, Haberler, C, Alvaro, F, Ecker, J, Selt, F, Milde, T, Witt, O, Oehme, I, Kool, M, von Deimling, A, Korshunov, A, Pfister, SM, Sahm, F, and Jones, DTW

Abstract

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens.

Published
2021

19. Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters (DGONC) - a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14

Author

Deng, M. Y., Sill, M., Sturm, D., Stichel, D., Witt, H., Ecker, J., Wittmann, A., Schittenhelm, J., Ebinger, M., Schuhmann, M. U., Figarella-Branger, D., Aronica, E., Staszewski, O., Preusser, M., Haberler, C., Lauten, M., Schueller, U., Hartmann, C., Snuderl, M., Dunham, C., Jabado, N., Wesseling, P., Deckert, M., Keyvani, K., Gottardo, N., Giangaspero, F., von Hoff, K., Ellison, D. W., Pietsch, T., Herold-Mende, C., Milde, T., Witt, O., Kool, M., Korshunov, A., Wick, W., von Deimling, A., Pfister, S. M., Jones, D. T. W., Sahm, F., Deng, M. Y., Sill, M., Sturm, D., Stichel, D., Witt, H., Ecker, J., Wittmann, A., Schittenhelm, J., Ebinger, M., Schuhmann, M. U., Figarella-Branger, D., Aronica, E., Staszewski, O., Preusser, M., Haberler, C., Lauten, M., Schueller, U., Hartmann, C., Snuderl, M., Dunham, C., Jabado, N., Wesseling, P., Deckert, M., Keyvani, K., Gottardo, N., Giangaspero, F., von Hoff, K., Ellison, D. W., Pietsch, T., Herold-Mende, C., Milde, T., Witt, O., Kool, M., Korshunov, A., Wick, W., von Deimling, A., Pfister, S. M., Jones, D. T. W., and Sahm, F.

Abstract

Aims DNA methylation-based central nervous system (CNS) tumour classification has identified numerous molecularly distinct tumour types, and clinically relevant subgroups among known CNS tumour entities that were previously thought to represent homogeneous diseases. Our study aimed at characterizing a novel, molecularly defined variant of glioneuronal CNS tumour. Patients and methods DNA methylation profiling was performed using the Infinium MethylationEPIC or 450 k BeadChip arrays (Illumina) and analysed using the 'conumee' package in R computing environment. Additional gene panel sequencing was also performed. Tumour samples were collected at the German Cancer Research Centre (DKFZ) and provided by multinational collaborators. Histological sections were also collected and independently reviewed. Results Genome-wide DNA methylation data from >25 000 CNS tumours were screened for clusters separated from established DNA methylation classes, revealing a novel group comprising 31 tumours, mainly found in paediatric patients. This DNA methylation-defined variant of low-grade CNS tumours with glioneuronal differentiation displays recurrent monosomy 14, nuclear clusters within a morphology that is otherwise reminiscent of oligodendroglioma and other established entities with clear cell histology, and a lack of genetic alterations commonly observed in other (paediatric) glioneuronal entities. Conclusions DNA methylation-based tumour classification is an objective method of assessing tumour origins, which may aid in diagnosis, especially for atypical cases. With increasing sample size, methylation analysis allows for the identification of rare, putative new tumour entities, which are currently not recognized by the WHO classification. Our study revealed the existence of a DNA methylation-defined class of low-grade glioneuronal tumours with recurrent monosomy 14, oligodendroglioma-like features and nuclear clusters.

Published
2020

22. Diffuse glioneuronal tumour with oligodendroglioma‐like features and nuclear clusters (DGONC) – a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14

Author

Deng, M. Y., primary, Sill, M., additional, Sturm, D., additional, Stichel, D., additional, Witt, H., additional, Ecker, J., additional, Wittmann, A., additional, Schittenhelm, J., additional, Ebinger, M., additional, Schuhmann, M. U., additional, Figarella‐Branger, D., additional, Aronica, E., additional, Staszewski, O., additional, Preusser, M., additional, Haberler, C., additional, Lauten, M., additional, Schüller, U., additional, Hartmann, C., additional, Snuderl, M., additional, Dunham, C., additional, Jabado, N., additional, Wesseling, P., additional, Deckert, M., additional, Keyvani, K., additional, Gottardo, N., additional, Giangaspero, F., additional, Hoff, K., additional, Ellison, D. W., additional, Pietsch, T., additional, Herold-Mende, C., additional, Milde, T., additional, Witt, O., additional, Kool, M., additional, Korshunov, A., additional, Wick, W., additional, Deimling, A., additional, Pfister, S. M., additional, Jones, D. T. W., additional, and Sahm, F., additional

Published
2020
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23. OP12.06: Infratentorial subpial hemorrhage: an underestimated location of fetal intracranial hemorrhage.

Author

Haboosheh, A., Glatter, S., Haberler, C., Amberg, N., Bettelheim, E., Prayer, D., and Kasprian, G.

Subjects
POSTMORTEM imaging, INTRACRANIAL hemorrhage, ECHO-planar imaging, SUBARACHNOID hemorrhage, FETAL growth retardation
Abstract

This article discusses a rare type of intracranial hemorrhage called subpial hemorrhage (SPH), which is typically seen in neonatal populations. The study aimed to describe the neuroimaging features of SPH over the cerebellar hemispheres and vermis on fetal MRI, postmortem MRI, and neuropathology. The researchers conducted a retrospective study at the Medical University of Vienna, Austria, and found that 10 out of 100 cases had infratentorial SPH. The study also found that SPH may be a consequence of vascular placental insufficiency. The authors hope that their findings will improve awareness and recognition of this rare disorder and prompt clinicians to search for underlying genetic mutations. [Extracted from the article]

Published
2024
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24. Reply

Author

Stoecklein, S., primary, Haberler, C., additional, Gruber, G., additional, Diogo, M., additional, Ulm, B., additional, Laccone, F. A., additional, and Prayer, D., additional

Published
2019
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31. DNA methylation-based classification of central nervous system tumours

Author

Capper, D, Jones, DTW, Sill, M, Hovestadt, V, Schrimpf, D, Sturm, D, Koelsche, C, Sahm, F, Chavez, L, Reuss, DE, Kratz, A, Wefers, AK, Huang, K, Pajtler, KW, Schweizer, L, Stichel, D, Olar, A, Engel, NW, Lindenberg, K, Harter, PN, Braczynski, AK, Plate, KH, Dohmen, H, Garvalov, BK, Coras, R, Hoelsken, A, Hewer, E, Bewerunge-Hudler, M, Schick, M, Fischer, R, Beschorner, R, Schittenhelm, J, Staszewski, O, Wani, K, Varlet, P, Pages, M, Temming, P, Lohmann, D, Selt, F, Witt, H, Milde, T, Witt, O, Aronica, E, Giangaspero, F, Rushing, E, Scheurlen, W, Geisenberger, C, Rodriguez, FJ, Becker, A, Preusser, M, Haberler, C, Bjerkvig, R, Cryan, J, Farrell, M, Deckert, M, Hench, J, Frank, S, Serrano, J, Kannan, K, Tsirigos, A, Brueck, W, Hofer, S, Brehmer, S, Seiz-Rosenhagen, M, Haenggi, D, Hans, V, Rozsnoki, S, Hansford, JR, Kohlhof, P, Kristensen, BW, Lechner, M, Lopes, B, Mawrin, C, Ketter, R, Kulozik, A, Khatib, Z, Heppner, F, Koch, A, Jouvet, A, Keohane, C, Muehleisen, H, Mueller, W, Pohl, U, Prinz, M, Benner, A, Zapatka, M, Gottardo, NG, Driever, PH, Kramm, CM, Mueller, HL, Rutkowski, S, von Hoff, K, Fruehwald, MC, Gnekow, A, Fleischhack, G, Tippelt, S, Calaminus, G, Monoranu, C-M, Perry, A, Jones, C, Jacques, TS, Radlwimmer, B, Gessi, M, Pietsch, T, Schramm, J, Schackert, G, Westphal, M, Reifenberger, G, Wesseling, P, Weller, M, Collins, VP, Bluemcke, I, Bendszus, M, Debus, J, Huang, A, Jabado, N, Northcott, PA, Paulus, W, Gajjar, A, Robinson, GW, Taylor, MD, Jaunmuktane, Z, Ryzhova, M, Platten, M, Unterberg, A, Wick, W, Karajannis, MA, Mittelbronn, M, Acker, T, Hartmann, C, Aldape, K, Schueller, U, Buslei, R, Lichter, P, Kool, M, Herold-Mende, C, Ellison, DW, Hasselblatt, M, Snuderl, M, Brandner, S, Korshunov, A, von Deimling, A, Pfister, SM, Capper, D, Jones, DTW, Sill, M, Hovestadt, V, Schrimpf, D, Sturm, D, Koelsche, C, Sahm, F, Chavez, L, Reuss, DE, Kratz, A, Wefers, AK, Huang, K, Pajtler, KW, Schweizer, L, Stichel, D, Olar, A, Engel, NW, Lindenberg, K, Harter, PN, Braczynski, AK, Plate, KH, Dohmen, H, Garvalov, BK, Coras, R, Hoelsken, A, Hewer, E, Bewerunge-Hudler, M, Schick, M, Fischer, R, Beschorner, R, Schittenhelm, J, Staszewski, O, Wani, K, Varlet, P, Pages, M, Temming, P, Lohmann, D, Selt, F, Witt, H, Milde, T, Witt, O, Aronica, E, Giangaspero, F, Rushing, E, Scheurlen, W, Geisenberger, C, Rodriguez, FJ, Becker, A, Preusser, M, Haberler, C, Bjerkvig, R, Cryan, J, Farrell, M, Deckert, M, Hench, J, Frank, S, Serrano, J, Kannan, K, Tsirigos, A, Brueck, W, Hofer, S, Brehmer, S, Seiz-Rosenhagen, M, Haenggi, D, Hans, V, Rozsnoki, S, Hansford, JR, Kohlhof, P, Kristensen, BW, Lechner, M, Lopes, B, Mawrin, C, Ketter, R, Kulozik, A, Khatib, Z, Heppner, F, Koch, A, Jouvet, A, Keohane, C, Muehleisen, H, Mueller, W, Pohl, U, Prinz, M, Benner, A, Zapatka, M, Gottardo, NG, Driever, PH, Kramm, CM, Mueller, HL, Rutkowski, S, von Hoff, K, Fruehwald, MC, Gnekow, A, Fleischhack, G, Tippelt, S, Calaminus, G, Monoranu, C-M, Perry, A, Jones, C, Jacques, TS, Radlwimmer, B, Gessi, M, Pietsch, T, Schramm, J, Schackert, G, Westphal, M, Reifenberger, G, Wesseling, P, Weller, M, Collins, VP, Bluemcke, I, Bendszus, M, Debus, J, Huang, A, Jabado, N, Northcott, PA, Paulus, W, Gajjar, A, Robinson, GW, Taylor, MD, Jaunmuktane, Z, Ryzhova, M, Platten, M, Unterberg, A, Wick, W, Karajannis, MA, Mittelbronn, M, Acker, T, Hartmann, C, Aldape, K, Schueller, U, Buslei, R, Lichter, P, Kool, M, Herold-Mende, C, Ellison, DW, Hasselblatt, M, Snuderl, M, Brandner, S, Korshunov, A, von Deimling, A, and Pfister, SM

Abstract

Accurate pathological diagnosis is crucial for optimal management of patients with cancer. For the approximately 100 known tumour types of the central nervous system, standardization of the diagnostic process has been shown to be particularly challenging-with substantial inter-observer variability in the histopathological diagnosis of many tumour types. Here we present a comprehensive approach for the DNA methylation-based classification of central nervous system tumours across all entities and age groups, and demonstrate its application in a routine diagnostic setting. We show that the availability of this method may have a substantial impact on diagnostic precision compared to standard methods, resulting in a change of diagnosis in up to 12% of prospective cases. For broader accessibility, we have designed a free online classifier tool, the use of which does not require any additional onsite data processing. Our results provide a blueprint for the generation of machine-learning-based tumour classifiers across other cancer entities, with the potential to fundamentally transform tumour pathology.

Published
2018

36. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Author

Sturm, D., Orr, B.A., Toprak, U.H., Hovestadt, V., Jones, D.T., Capper, D., Sill, M., Buchhalter, I., Northcott, P.A., Leis, I., Ryzhova, M., Koelsche, C., Pfaff, E., Allen, S.J., Balasubramanian, G., Worst, B.C., Pajtler, K.W., Brabetz, S., Johann, P.D., Sahm, F., Reimand, J., Mackay, A., Carvalho, D.M., Remke, M., Phillips, J.J., Perry, A., Cowdrey, C., Drissi, R., Fouladi, M., Giangaspero, F., Lastowska, M., Grajkowska, W., Scheurlen, W., Pietsch, T., Hagel, C., Gojo, J., Lotsch, D., Berger, W., Slavc, I., Haberler, C., Jouvet, A., Holm, S., Hofer, S., Prinz, M., Keohane, C., Fried, I., Mawrin, C., Scheie, D., Mobley, B.C., Schniederjan, M.J., Santi, M., Buccoliero, A.M., Dahiya, S., Kramm, C.M., Bueren, A.O. von, Hoff, K. von, Rutkowski, S., Herold-Mende, C., Fruhwald, M.C., Milde, T., Hasselblatt, M., Wesseling, P., Rossler, J., Schuller, U., Ebinger, M., Schittenhelm, J., Frank, S., Grobholz, R., Vajtai, I., Hans, V., Schneppenheim, R., Zitterbart, K., Collins, V.P., Aronica, E., Varlet, P., Puget, S., Dufour, C., Grill, J., Figarella-Branger, D., Wolter, M., Schuhmann, M.U., Shalaby, T., Grotzer, M., Meter, T. van, Monoranu, C.M., Felsberg, J., Reifenberger, G., Snuderl, M., Forrester, L.A., Koster, J., Versteeg, R., Volckmann, R., Sluis, P. van, Wolf, S., Mikkelsen, T., Gajjar, A., Aldape, K., Moore, A.S., Taylor, M.D., Jones, C., et al., Sturm, D., Orr, B.A., Toprak, U.H., Hovestadt, V., Jones, D.T., Capper, D., Sill, M., Buchhalter, I., Northcott, P.A., Leis, I., Ryzhova, M., Koelsche, C., Pfaff, E., Allen, S.J., Balasubramanian, G., Worst, B.C., Pajtler, K.W., Brabetz, S., Johann, P.D., Sahm, F., Reimand, J., Mackay, A., Carvalho, D.M., Remke, M., Phillips, J.J., Perry, A., Cowdrey, C., Drissi, R., Fouladi, M., Giangaspero, F., Lastowska, M., Grajkowska, W., Scheurlen, W., Pietsch, T., Hagel, C., Gojo, J., Lotsch, D., Berger, W., Slavc, I., Haberler, C., Jouvet, A., Holm, S., Hofer, S., Prinz, M., Keohane, C., Fried, I., Mawrin, C., Scheie, D., Mobley, B.C., Schniederjan, M.J., Santi, M., Buccoliero, A.M., Dahiya, S., Kramm, C.M., Bueren, A.O. von, Hoff, K. von, Rutkowski, S., Herold-Mende, C., Fruhwald, M.C., Milde, T., Hasselblatt, M., Wesseling, P., Rossler, J., Schuller, U., Ebinger, M., Schittenhelm, J., Frank, S., Grobholz, R., Vajtai, I., Hans, V., Schneppenheim, R., Zitterbart, K., Collins, V.P., Aronica, E., Varlet, P., Puget, S., Dufour, C., Grill, J., Figarella-Branger, D., Wolter, M., Schuhmann, M.U., Shalaby, T., Grotzer, M., Meter, T. van, Monoranu, C.M., Felsberg, J., Reifenberger, G., Snuderl, M., Forrester, L.A., Koster, J., Versteeg, R., Volckmann, R., Sluis, P. van, Wolf, S., Mikkelsen, T., Gajjar, A., Aldape, K., Moore, A.S., Taylor, M.D., Jones, C., and et al.

Abstract

Item does not contain fulltext, Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly aggressive, poorly differentiated embryonal tumors occurring predominantly in young children but also affecting adolescents and adults. Herein, we demonstrate that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors. From the remaining fraction of CNS-PNETs, we identify four new CNS tumor entities, each associated with a recurrent genetic alteration and distinct histopathological and clinical features. These new molecular entities, designated "CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2)," "CNS Ewing sarcoma family tumor with CIC alteration (CNS EFT-CIC)," "CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1)," and "CNS high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)," will enable meaningful clinical trials and the development of therapeutic strategies for patients affected by poorly differentiated CNS tumors.

Published
2016

38. Claudin-6 is of limited sensitivity and specificity for the diagnosis of atypical teratoid/rhabdoid tumors

Author

Antonelli, Massimo, Hasselblatt, M, Haberler, C, Di Giannatale, Angela, Garre', Ml, Donofrio, V, Lauriola, Libero, Ridola, Vita, Arcella, A, Früwald, M, and Giangaspero, Felice

Subjects
Male, Chromosomal Proteins, Non-Histone, Kaplan-Meier Estimate, Pediatrics, Sensitivity and Specificity, Germany, Humans, teratoid, Rhabdoid Tumor, Research Articles, ini1 protein, rhabdoid, baf47, Chi-Square Distribution, claudin-6 protein, Settore MED/08 - ANATOMIA PATOLOGICA, atypical teratoid/rhabdoid tumor, brain tumor, atrt cldn6 immunoistochemistry, Brain Neoplasms, SMARCB1 Protein, DNA-Binding Proteins, Austria, Claudins, Female, Follow-Up Studies, Transcription Factors
Abstract

Recent gene expression microarray analyses have indicated that claudin‐6 is specifically expressed in atypical teratoid rhabdoid tumors (AT/RTs), suggesting a role as a positive diagnostic marker in addition to SMARCB1 (INI1) loss, which is encountered in the majority of AT/RTs. In order to investigate the potential of claudin‐6 as a diagnostic marker, expression was investigated in 59 AT/RTs and 60 other primary central nervous system (CNS) tumors, including primitive neuroectodermal tumors, medulloblastomas, choroid plexus tumors, and both pediatric and adult low‐ and high‐grade gliomas using immunohistochemistry. Claudin‐6 was expressed in 17/59 AT/RTs (29%), but also in a variety of other primary CNS tumors, including 60% of medulloblastomas and 21% of malignant gliomas. Even though high staining scores (2+ or 3+) were more often encountered in AT/RTs (Chi‐square 4.177; P = 0.041), the overall frequency of claudin‐6 staining was not significantly higher in AT/RTs as compared with the other tumors (17/59 vs. 16/60; Chi‐square = 0.328; P = 0.567). In a subgroup of 43 AT/RT patients, of which follow‐up data were available, claudin‐6 expression did not show any correlation with survival. In conclusion, claudin‐6 immunohistochemistry is of limited sensitivity and specificity for the diagnosis of AT/RT and does not correlate with clinical behavior.

Published
2011

43. EPIDEMIOLOGY

Author

Liu, A. P.-Y., primary, Shing, M. M.-K., additional, Yuen, H.-L., additional, Li, C.-H., additional, Ling, S.-C., additional, Luk, C.-W., additional, Ha, S.-Y., additional, Li, C.-K., additional, Chan, G. C.-F., additional, Tsui, K., additional, Gajjar, A., additional, Li, C., additional, Srivastava, D., additional, Broniscer, A., additional, Wetmore, C., additional, Kun, L. E., additional, Merchant, T. E., additional, Ellison, D. W., additional, Orr, B., additional, Boop, F. A., additional, Paul Klimo, J., additional, Ross, J. D., additional, Robison, L. L., additional, Armstrong, G. T., additional, Walker, D., additional, Chu, T., additional, Shah, A., additional, Wilne, S., additional, Coleman, M., additional, Jaque, F. A. M., additional, Muthappan, M., additional, Law, A. J. J., additional, Shing, M. M. K., additional, Chan, G. C. F., additional, Yuen, H. L., additional, Lee, R. C. H., additional, Ling, S. C., additional, Luk, C. W., additional, Ha, S. Y., additional, Li, C. K., additional, Mang, O. W. S., additional, Ngan, R. K. C., additional, Alston, R., additional, Estlin, E., additional, McCabe, M., additional, Birch, J., additional, Gattamaneni, R., additional, Kamaly-Asl, I., additional, Bendel, A., additional, Pond, D., additional, Woehrer, A., additional, Azizi, A. A., additional, Heumesser, R., additional, Hackl, M., additional, Hainfellner, J. A., additional, Dorfer, C., additional, Czech, T., additional, Chocholous, M., additional, Slavc, I., additional, Haberler, C., additional, Hami, H., additional, Ayoujil, A., additional, Habib, F., additional, Soulaymani, A., additional, Mokhtari, A., additional, Quyou, A., additional, Lim, A. H. J., additional, Chan, M. Y., additional, Tan, A. M., additional, Soh, S. Y., additional, Garba, S. M., additional, Zaki, H. M., additional, Nouhou, H., additional, Owens-Pickle, E., additional, Smith, A., additional, Green, A. L., additional, Schoettler, M., additional, Bandopadhayay, P., additional, Sauer, N., additional, Manley, P. E., additional, Chi, S. N., additional, Rodriguez-Galindo, C., additional, Kieran, M. W., additional, and Ribeiro, K., additional

Published
2014
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44. EPENDYMOMA

Author

Hoffman, L. M., primary, Donson, A. M., additional, Nakachi, I., additional, Griesinger, A. M., additional, Birks, D. K., additional, Amani, V., additional, Hemenway, M. S., additional, Liu, A. K., additional, Wang, M., additional, Hankinson, T. C., additional, Handler, M. H., additional, Foreman, N. K., additional, Zakrzewska, M., additional, Zakrzewski, K., additional, Fendler, W., additional, Stefanczyk, L., additional, Liberski, P. P., additional, Massimino, M., additional, Gandola, L., additional, Ferroli, P., additional, Valentini, L., additional, Biassoni, V., additional, Garre, M. L., additional, Sardi, I., additional, Genitori, L., additional, Giussani, C., additional, Massimi, L., additional, Bertin, D., additional, Mussano, A., additional, Viscardi, E., additional, Modena, P., additional, Mastronuzzi, A., additional, Barra, S., additional, Scarzello, G., additional, Cinalli, G., additional, Peretta, P., additional, Giangaspero, F., additional, Boschetti, L., additional, Schiavello, E., additional, Calareso, G., additional, Antonelli, M., additional, Pecori, E., additional, Di Meco, F., additional, Migliorati, R., additional, Taborelli, A., additional, Witt, H., additional, Sill, M., additional, Wani, K., additional, Mack, S. C., additional, Capper, D., additional, Pajtler, K., additional, Lambert, S., additional, Tzaridis, T., additional, Milde, T., additional, Northcott, P. A., additional, Kulozik, A. E., additional, Witt, O., additional, Collins, V. P., additional, Ellison, D. W., additional, Taylor, M. D., additional, Kool, M., additional, Jones, D. T. W., additional, Korshunov, A., additional, Ken, A., additional, Pfister, S. M., additional, Makino, K., additional, Nakamura, H., additional, Kuroda, J.-i., additional, Kuratsu, J.-i., additional, Toledano, H., additional, Margolin, Y., additional, Ohali, A., additional, Michowiz, S., additional, Johann, P., additional, Tabori, U., additional, Walker, E., additional, Hawkins, C., additional, Taylor, M., additional, Yaniv, I., additional, Avigad, S., additional, Hoffman, L., additional, Plimpton, S. R., additional, Stence, N. V., additional, Vibhakar, R., additional, Lourdusamy, A., additional, Rahman, R., additional, Ward, J., additional, Rogers, H., additional, Grundy, R., additional, Punchihewa, C., additional, Lee, R., additional, Lin, T., additional, Orisme, W., additional, Dalton, J., additional, Aronica, E., additional, Smith, A., additional, Gajjar, A., additional, Onar, A., additional, Pounds, S., additional, Tatevossian, R., additional, Merchant, T., additional, Ellison, D., additional, Parker, M., additional, Mohankumar, K., additional, Weinlich, R., additional, Phoenix, T., additional, Thiruvenkatam, R., additional, White, E., additional, Gupta, K., additional, Boop, F., additional, Ding, L., additional, Mardis, E., additional, Wilson, R., additional, Downing, J., additional, Gilbertson, R., additional, Speed, D., additional, Gould, T., additional, Consortium, t. I. E., additional, Hoffman, L. M., additional, Griesinger, A., additional, Donson, A., additional, Birks, D., additional, Ohe, N., additional, Yano, H., additional, Nakayama, N., additional, Iwama, T., additional, Wright, K., additional, Hassall, T., additional, Bowers, D. C., additional, Crawford, J., additional, Bendel, A., additional, Fisher, P. G., additional, Klimo, P., additional, Armstrong, G., additional, Qaddoumi, I., additional, Robinson, G., additional, Wetmore, C., additional, Broniscer, A., additional, Chapman, R., additional, Mayne, C., additional, Duane, H., additional, Kilday, J.-P., additional, Coyle, B., additional, Graul-Conroy, A., additional, Hartsell, W., additional, Bragg, T., additional, Goldman, S., additional, Rebsamen, S., additional, Puccetti, D., additional, Salamat, S., additional, Patel, N. J., additional, Gomi, A., additional, Oguma, H., additional, Hayase, T., additional, Kawahara, Y., additional, Yagi, M., additional, Morimoto, A., additional, Wilbur, C., additional, Dunham, C., additional, Mabbott, D., additional, Carret, A.-S., additional, Lafay-Cousin, L., additional, McNeely, P. D., additional, Eisenstat, D., additional, Wilson, B., additional, Johnston, D., additional, Hukin, J., additional, Mynarek, M., additional, Kortmann, R. D., additional, Kaatsch, P., additional, Pietsch, T., additional, Timmermann, B., additional, Fleischhack, G., additional, Benesch, M., additional, Friedrich, C., additional, von Bueren, A. O., additional, Gerber, N. U., additional, Muller, K., additional, Tippelt, S., additional, Warmuth-Metz, M., additional, Rutkowski, S., additional, von Hoff, K., additional, Murugesan, M. K., additional, Poppleton, H., additional, Currle, S., additional, Kranenburg, T., additional, Eden, C., additional, Boulos, N., additional, Dapper, J., additional, Patel, Y., additional, Freeman, B., additional, Shelat, A., additional, Stewart, C., additional, Guy, R., additional, Adamski, J., additional, Huang, A., additional, Bartels, U., additional, Ramaswamy, V., additional, Krishnatry, R., additional, Laperriere, N., additional, Bouffet, E., additional, Araki, A., additional, Chocholous, M., additional, Gojo, J., additional, Dorfer, C., additional, Czech, T., additional, Dieckmann, K., additional, Slavc, I., additional, Haberler, C., additional, Doerner, E., additional, Muehlen, A. z., additional, Kortmann, R., additional, von Buehren, A., additional, Ottensmeier, H., additional, Resch, A., additional, Kwiecien, R., additional, Faldum, A., additional, Kuehl, J., additional, Sabnis, D., additional, Storer, L., additional, Simmonds, L., additional, Blackburn, S., additional, Lowe, J., additional, Kerr, I., additional, Wohlers, I., additional, Goschzik, T., additional, Dreschmann, V., additional, Denkhaus, D., additional, Rahmann, S., additional, Klein-Hitpass, L., additional, Iglesias, M. J. L., additional, Riet, F. G., additional, Dhermain, F. D., additional, Canale, S., additional, Dufour, C., additional, Rose, C. S., additional, Puget, S., additional, Grill, J., additional, Bolle, S., additional, Parkes, J., additional, Davidson, A., additional, Figaji, A., additional, Pillay, K., additional, Kilborn, T., additional, Padayachy, L., additional, Hendricks, M., additional, Van Eyssen, A., additional, Piccinin, E., additional, Lorenzetto, E., additional, Brenca, M., additional, Aldape, K., additional, Cho, Y.-J., additional, Weiss, W., additional, Phillips, J., additional, Jabado, N., additional, Mora, J., additional, Fan, X., additional, Jung, S., additional, Lee, J. Y., additional, Zitterbart, K., additional, French, P., additional, Kros, J. M., additional, Hauser, P., additional, Faria, C., additional, and Pfister, S., additional

Published
2014
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45. ATYPICAL TERATOID RHABDOID TUMOUR

Author

Bertozzi, A. I., primary, Munzer, C., additional, Fouyssac, F., additional, Andre, N., additional, Boetto, S., additional, Leblond, P., additional, Bourdeaut, F., additional, Dufour, C., additional, Deshpande, R. K., additional, Bhat, K. G., additional, Mahalingam, S., additional, Muscat, A., additional, Cain, J., additional, Ferguson, M., additional, Popovski, D., additional, Algar, E., additional, Rossello, F. J., additional, Jayasekara, S., additional, Watkins, D. N., additional, Hodge, J., additional, Ashley, D., additional, Hishii, M., additional, Saito, M., additional, Arai, H., additional, Han, Z. Y., additional, Richer, W., additional, Lucchesi, C., additional, Freneaux, P., additional, Nicolas, A., additional, Grison, C., additional, Pierron, G., additional, Delattre, O., additional, Epari, S., additional, TS, N., additional, Gupta, T., additional, Chinnaswamy, G., additional, Sastri, J. G., additional, Shetty, P., additional, Moiyadi, A., additional, Jalali, R., additional, Fay-McClymont, T., additional, Johnston, D., additional, Janzen, L., additional, Guger, S., additional, Scheinemann, K., additional, Fleming, A., additional, Fryer, C., additional, Hukin, J., additional, Mabbott, D., additional, Huang, A., additional, Bouffet, E., additional, Lafay-Cousin, L., additional, Kawamura, A., additional, Yamamoto, K., additional, Nagashima, T., additional, Bartelheim, K., additional, Benesch, M., additional, Buchner, J., additional, Gerss, J., additional, Hasselblatt, M., additional, Kortmann, R.-D., additional, Fleischack, G., additional, Quiroga, E., additional, Reinhard, H., additional, Schneppenheim, R., additional, Seeringer, A., additional, Siebert, R., additional, Timmermann, B., additional, Warmuth-Metz, M., additional, Schmid, I., additional, Fruhwald, M. C., additional, Kerl, K., additional, Klingebiel, T., additional, Al-Kofide, A., additional, Khafaga, Y., additional, Al-Hindi, H., additional, Dababo, M., additional, Ul-Haq, A., additional, Anas, M., additional, Barria, M. G., additional, Siddiqui, K., additional, Hassounah, M., additional, Ayas, M., additional, Al-Shail, E., additional, Jeibmann, A., additional, Eikmeier, K., additional, Linge, A., additional, Johann, P., additional, Koos, B., additional, Kool, M., additional, Pfister, S. M., additional, Paulus, W., additional, Schuller, U., additional, Junckerstorff, R., additional, Rosenblum, M. K., additional, Alassiri, A. H., additional, Rossi, S., additional, Gottardo, N., additional, Toledano, H., additional, Viscardi, E., additional, Witkowski, L., additional, Nagel, I., additional, Oyen, F., additional, Foulkes, W. D., additional, Schrey, D., additional, Malietzis, G., additional, Chi, S., additional, Marshall, L., additional, Carceller, F., additional, Moreno, L., additional, Zacharoulis, S., additional, Bhardwaj, R., additional, Chakravadhanula, M., additional, Ozals, V., additional, Hampton, C., additional, Metpally, R., additional, Grillner, P., additional, Asmundsson, J., additional, Gustavsson, B., additional, Holm, S., additional, Johann, P. D., additional, Korshunov, A., additional, Ryzhova, M., additional, Milde, T., additional, Witt, O., additional, Jones, D. T. W., additional, Hovestadt, V., additional, Gajjar, A., additional, Fruhwald, M., additional, Pfister, S., additional, Finetti, M., additional, Pons, A. d. C., additional, Selby, M., additional, Smith, A., additional, Crosier, S., additional, Wood, J., additional, Skalkoyannis, B., additional, Bailey, S., additional, Clifford, S., additional, Williamson, D., additional, Rutkowski, S., additional, Kortmann, R. D., additional, Graf, N., additional, Boos, J., additional, Nysom, K., additional, Moreno, N., additional, Holsten, T., additional, Ahlfeld, J., additional, Mertins, J., additional, Hotfilder, M., additional, Schleicher, S., additional, Handgretinger, R., additional, Meisterernst, M., additional, Schmidt, C., additional, Dittmar, S., additional, Chan, G. C. F., additional, Shing, M. M. K., additional, Yuen, H. L., additional, Li, R. C. H., additional, Ling, S. L., additional, Slavc, I., additional, Peyrl, A., additional, Chocholous, M., additional, Azizi, A., additional, Czech, T., additional, Dieckmann, K., additional, Haberler, C., additional, Leiss, U., additional, Gotti, G., additional, Biassoni, V., additional, Schiavello, E., additional, Spreafico, F., additional, Pecori, E., additional, Gandola, L., additional, Massimino, M., additional, Kornelius, K., additional, Yano, H., additional, Nakayama, N., additional, Ohe, N., additional, Ozeki, M., additional, Kanda, K., additional, Kimura, T., additional, Hori, T., additional, Fukao, T., additional, Iwama, T., additional, Weil, A. G., additional, Diaz, A., additional, Gernsback, J., additional, Bhatia, S., additional, Ragheb, J., additional, Niazi, T., additional, Khatib, Z., additional, Zoghbi, A., additional, Meisterernst, a. M., additional, Birks, D., additional, Griesinger, A., additional, Amani, V., additional, Donson, A., additional, Posner, R., additional, Dunham, C., additional, Kleinschmidt-DeMasters, B. K., additional, Handler, M., additional, Vibhakar, R., additional, Foreman, N., additional, Zhou, L., additional, Catchpoole, D., additional, Kakkar, A., additional, Biswas, A., additional, Suri, V., additional, Sharma, M., additional, Kale, S., additional, Mahapatra, A., additional, Sarkar, C., additional, Torchia, J., additional, Picard, D., additional, Ho, K. C., additional, Khuong-Quang, D.-A., additional, Louterneau, L., additional, Bourgey, M., additional, Chan, T., additional, Golbourn, B., additional, Cousin, L.-L., additional, Taylor, M. D., additional, Dirks, P., additional, Rutka, J. T., additional, Hawkins, C., additional, Majewski, J., additional, Kim, S.-K., additional, Jabado, N., additional, Chang, J. H.-C., additional, Confer, M., additional, Chang, A., additional, Goldman, S., additional, Dunn, M., additional, and Hartsell, W., additional

Published
2014
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46. Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Author

Northcott, P., Shih, D., Peacock, J., Garzia, L., Sorana Morrissy, A., Zichner, T., Stútz, A., Korshunov, A., Reimand, J., Schumacher, S., Beroukhim, R., Ellison, D., Marshall, C., Lionel, A., MacK, S., Dubuc, A., Yao, Y., Ramaswamy, V., Luu, B., Rolider, A., Cavalli, F., Wang, X., Remke, M., Wu, X., Chiu, R., Chu, A., Chuah, E., Corbett, R., Hoad, G., Jackman, S., Li, Y., Lo, A., Mungall, K., Ming Nip, K., Qian, J., Raymond, A., Thiessen, N., Varhol, Richard, Birol, I., Moore, R., Mungall, A., Holt, R., Kawauchi, D., Roussel, M., Kool, M., Jones, D., Witt, H., Fernandez-L, A., Kenney, A., Wechsler-Reya, R., Dirks, P., Aviv, T., Grajkowska, W., Perek-Polnik, M., Haberler, C., Delattre, O., Reynaud, S., Doz, F., Pernet-Fattet, S., Cho, B., Kim, S., Wang, K., Scheurlen, W., Eberhart, C., Fèvre-Montange, M., Jouvet, A., Pollack, I., Fan, X., Muraszko, K., Yancey Gillespie, G., Di Rocco, C., Massimi, L., Michiels, E., Kloosterhof, N., French, P., Kros, J., Olson, J., Ellenbogen, R., Zitterbart, K., Kren, L., Thompson, R., Cooper, M., Northcott, P., Shih, D., Peacock, J., Garzia, L., Sorana Morrissy, A., Zichner, T., Stútz, A., Korshunov, A., Reimand, J., Schumacher, S., Beroukhim, R., Ellison, D., Marshall, C., Lionel, A., MacK, S., Dubuc, A., Yao, Y., Ramaswamy, V., Luu, B., Rolider, A., Cavalli, F., Wang, X., Remke, M., Wu, X., Chiu, R., Chu, A., Chuah, E., Corbett, R., Hoad, G., Jackman, S., Li, Y., Lo, A., Mungall, K., Ming Nip, K., Qian, J., Raymond, A., Thiessen, N., Varhol, Richard, Birol, I., Moore, R., Mungall, A., Holt, R., Kawauchi, D., Roussel, M., Kool, M., Jones, D., Witt, H., Fernandez-L, A., Kenney, A., Wechsler-Reya, R., Dirks, P., Aviv, T., Grajkowska, W., Perek-Polnik, M., Haberler, C., Delattre, O., Reynaud, S., Doz, F., Pernet-Fattet, S., Cho, B., Kim, S., Wang, K., Scheurlen, W., Eberhart, C., Fèvre-Montange, M., Jouvet, A., Pollack, I., Fan, X., Muraszko, K., Yancey Gillespie, G., Di Rocco, C., Massimi, L., Michiels, E., Kloosterhof, N., French, P., Kros, J., Olson, J., Ellenbogen, R., Zitterbart, K., Kren, L., Thompson, R., and Cooper, M.

Abstract

Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4a. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-ß signalling in Group 3, and NF-?B signalling in Group 4, suggest future avenues for rational, targeted therapy. © 2012 Macmillan Publishers Limited. All rights reserved.

Published
2012

47. PEDIATRICS CLINICAL RESEARCH

Author

Antony, R., primary, Zagardo, M., additional, Gujrati, M., additional, Lin, J., additional, Antony, R., additional, Al-Rahawan, M., additional, Broniscer, A., additional, Bhardwaj, R., additional, Hampton, C., additional, Ozols, V., additional, Chakravadhanula, M., additional, Bouffet, E., additional, Hawkins, C., additional, Scheinemann, K., additional, Zelcer, S., additional, Johnston, D., additional, Lafay-Cousin, L., additional, Larouche, V., additional, Jabado, N., additional, Carret, A. S., additional, Hukin, J., additional, Eisenstat, D., additional, Pond, G., additional, Poskitt, K., additional, Wilson, B., additional, Bartels, U., additional, Tabori, U., additional, Dhall, G., additional, Haley, K., additional, Finlay, J., additional, Rushing, T., additional, Sposto, R., additional, Seeger, R., additional, Garvin, J., additional, Rupani, K., additional, Stark, E., additional, Anderson, R., additional, Feldstein, N., additional, Grill, J., additional, Hargrave, D., additional, Massimino, M., additional, Jaspan, T., additional, Varlet, P., additional, Jones, C., additional, Morgan, P., additional, Le Deley, M. C., additional, Azizi, A., additional, Canete, A., additional, Saran, F., additional, Bachir, J., additional, Bubuteishvili-Pacaud, L., additional, Rousseau, R., additional, Vassal, G., additional, Gupta, S., additional, Robinson, N., additional, Dhir, N., additional, Wong, K., additional, Zhou, S., additional, Kumabe, T., additional, Kawaguchi, T., additional, Saito, R., additional, Kanamori, M., additional, Yamashita, Y., additional, Sonoda, Y., additional, Tominaga, T., additional, Miyagawa, T., additional, Nwachukwu, C., additional, Youland, R., additional, Laack, N., additional, Filipek, I., additional, Drogosiewicz, M., additional, Polnik, M. P.-, additional, Swieszkowska, E., additional, Dembowska-Baginska, B., additional, Jurkiewicz, E., additional, Perek, D., additional, Grajkowska, W., additional, Roszkowski, M., additional, Sobol, G., additional, Musiol, K., additional, Wachowiak, J., additional, Kazmierczak, B., additional, Pogorzelski, J. P. -, additional, Mlynarski, W., additional, Szewczyk, B. Z.-, additional, Wysocki, M., additional, Niedzielska, E., additional, Kowalczyk, J., additional, Slusarz, H. W. -, additional, Balwierz, W., additional, Czepko, E. Z. -, additional, Szolkiewicz, A., additional, Perek-Polnik, M., additional, Lastowska, M., additional, Chojnacka, M., additional, Tarasinska, M., additional, Perreault, S., additional, Chao, K., additional, Ramaswamy, V., additional, Shih, D., additional, Remke, M., additional, Luu, B., additional, Schubert, S., additional, Fisher, P., additional, Partap, S., additional, Vogel, H., additional, Taylor, M., additional, Goumnerova, L., additional, Cho, Y.-J., additional, Robison, N., additional, Brown, R., additional, Cloughesy, T., additional, Davidson, T. B., additional, Krieger, M., additional, Berger, M., additional, Perry, A., additional, Gilles, F., additional, Finlay, J. L., additional, Khemani, J., additional, Britt, B., additional, Grimm, J., additional, Ruge, M. I., additional, Blau, T., additional, Hafkemeyer, V., additional, Hamisch, C., additional, Klinger, K., additional, Simon, T., additional, Sadighi, Z., additional, Ellezam, B., additional, Guindani, M., additional, Ater, J., additional, Shimizu, Y., additional, Arai, H., additional, Miyajima, M., additional, Shimoji, K., additional, Kondo, A., additional, Shinohara, E., additional, Perkins, S., additional, DeWees, T., additional, Slavc, I., additional, Chocholous, M., additional, Leiss, U., additional, Haberler, C., additional, Peyrl, A., additional, Azizi, A. A., additional, Dieckmann, K., additional, Woehrer, A., additional, Dorfer, C., additional, Czech, T., additional, Spence, T., additional, Picard, D., additional, Barszczyk, M., additional, Kim, S.-K., additional, Ra, Y.-S., additional, Fangusaro, J., additional, Toledano, H., additional, Nakamura, H., additional, Fan, X., additional, Muraszko, K. M., additional, Ng, H.-K., additional, Halliday, W., additional, Shago, M., additional, Hawkins, C. E., additional, Huang, A., additional, Suzuki, M., additional, van Zanten, S. V., additional, Jansen, M., additional, van Vuurden, D., additional, Hulleman, E., additional, Idema, S., additional, Noske, D., additional, Wolf, N., additional, Hendrikse, H., additional, Vandertop, P., additional, Kaspers, G. J., additional, Muller, K., additional, Schlamann, A., additional, Warmuth-Metz, M., additional, Pietsch, T., additional, Pietschmann, S., additional, Kortmann, R.-D., additional, Kramm, C. M., additional, von Bueren, A. O., additional, Walston, S., additional, Williams, T., additional, Hamstra, D., additional, Oh, K., additional, Pelloski, C., additional, Zhukova, N., additional, Pole, J., additional, Mistry, M., additional, Fried, I., additional, Lapperiere, N., additional, Dirks, P., additional, An, J., additional, Alon, N., additional, Nathan, P., additional, Greenberg, M., additional, and Malkin, D., additional

Published
2013
Full Text
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50. CLIN-PEDIATRICS CLINICAL RESEARCH

Author

Packer, R. J., primary, Rood, B. R., additional, Onar-Thomas, A., additional, Goldman, S., additional, Fisher, M. J., additional, Smith, C., additional, Boyett, J., additional, Kun, L., additional, Nelson, M. B., additional, Compton, P., additional, Macey, P., additional, Patel, S., additional, Jacob, E., additional, O'Neil, S., additional, Finlay, J., additional, Harper, R., additional, Legault, G., additional, Chhabra, A., additional, Allen, J. C., additional, Si, S. J., additional, Flores, N., additional, Haley, K., additional, Malvar, J., additional, Fangusaro, J., additional, Dhall, G., additional, Sposto, R., additional, Davidson, T. B., additional, Finlay, J. L., additional, Krieger, M., additional, Zhou, T., additional, Miller, D. C., additional, Geyer, J. R., additional, Pollack, I. F., additional, Gajjar, A., additional, Cohen, B. H., additional, Nellan, A., additional, Murray, J. C., additional, Honeycutt, J., additional, Gomez, A., additional, Head, H., additional, Braly, E., additional, Puccetti, D. M., additional, Patel, N., additional, Kennedy, T., additional, Bradley, K., additional, Howard, S., additional, Salamat, S., additional, Iskandar, B., additional, Slavc, I., additional, Peyrl, A., additional, Chocholous, M., additional, Kieran, M., additional, Azizi, A., additional, Czech, T., additional, Dieckmann, K., additional, Haberler, C., additional, Sadighi, Z. S., additional, Ellezam, B., additional, Khatua, S., additional, Ater, J., additional, Biswas, A., additional, Kakkar, A., additional, Goyal, S., additional, Mallick, S., additional, Sarkar, C., additional, Sharma, M. C., additional, Julka, P. K., additional, Rath, G. K., additional, Glass, T., additional, Cochrane, D. D., additional, Rassekh, S. R., additional, Goddard, K., additional, Hukin, J., additional, Deopujari, C. E., additional, Khakoo, Y., additional, Hanmantgad, S., additional, Forester, K., additional, McDonald, S. A., additional, De Braganca, K., additional, Yohay, K., additional, Wolff, J. E., additional, Kwiecien, R., additional, Rutkowski, S., additional, Pietsch, T., additional, Faldum, A., additional, Kortmann, R.-D., additional, Kramm, C., additional, Fouladi, M., additional, Olson, J., additional, Stewart, C., additional, Kocak, M., additional, Wagner, L., additional, Packer, R., additional, Gururangan, S., additional, Blaney, S., additional, Pollack, I., additional, Demuth, T., additional, Gilbertson, R., additional, Powell, M. K., additional, Klement, G. L., additional, Roffidal, T., additional, and Fonkem, E., additional

Published
2012
Full Text
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