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New brain tumor entities emerge from molecular classification of CNS-PNETs

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 diagno...

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Main Authors: Sturm, Dominik (Author) , Orr, Brent A. (Author) , Toprak, Umut (Author) , Hovestadt, Volker (Author) , Jones, David T. W. (Author) , Capper, David (Author) , Sill, Martin (Author) , Buchhalter, Ivo (Author) , Northcott, Paul A. (Author) , Leis, Irina (Author) , Ryzhova, Marina (Author) , Kölsche, Christian (Author) , Pfaff, Elke (Author) , Allen, Sariah J. (Author) , Balasubramanian, Gnana Prakash (Author) , Jones, Barbara Christine (Author) , Pajtler, Kristian Wilfried (Author) , Brabetz, Sebastian (Author) , Johann, Pascal-David (Author) , Sahm, Felix (Author) , Reimand, Jüri (Author) , Mackay, Alan (Author) , Carvalho, Diana M. (Author) , Remke, Marc (Author) , Phillips, Joanna J. (Author) , Perry, Arie (Author) , Cowdrey, Cynthia (Author) , Drissi, Rachid (Author) , Fouladi, Maryam (Author) , Giangaspero, Felice (Author) , Łastowska, Maria (Author) , Grajkowska, Wiesława (Author) , Scheurlen, Wolfram (Author) , Pietsch, Torsten (Author) , Hagel, Christian (Author) , Gojo, Johannes (Author) , Lötsch, Daniela (Author) , Berger, Walter (Author) , Slavc, Irene (Author) , Haberler, Christine (Author) , Jouvet, Anne (Author) , Holm, Stefan (Author) , Hofer, Silvia (Author) , Prinz, Marco (Author) , Keohane, Catherine (Author) , Fried, Iris (Author) , Mawrin, Christian (Author) , Scheie, David (Author) , Mobley, Bret C. (Author) , Schniederjan, Matthew J. (Author) , Santi, Mariarita (Author) , Buccoliero, Anna M. (Author) , Dahiya, Sonika (Author) , Kramm, Christof M. (Author) , Bueren, André von (Author) , Hoff, Katja von (Author) , Rutkowski, Stefan (Author) , Herold-Mende, Christel (Author) , Frühwald, Michael (Author) , Milde, Till (Author) , Hasselblatt, Martin (Author) , Wesseling, Pieter (Author) , Rößler, Jochen (Author) , Schüller, Ulrich (Author) , Ebinger, Martin (Author) , Schittenhelm, Jens Florian (Author) , Frank, Stephan (Author) , Grobholz, Rainer (Author) , Vajtai, Istvan (Author) , Hans, Volkmar (Author) , Schneppenheim, Reinhard (Author) , Zitterbart, Karel (Author) , Collins, V. Peter (Author) , Aronica, Eleonora (Author) , Varlet, Pascale (Author) , Puget, Stephanie (Author) , Dufour, Christelle (Author) , Grill, Jacques (Author) , Figarella-Branger, Dominique (Author) , Wolter, Marietta (Author) , Schuhmann, Martin Ulrich (Author) , Shalaby, Tarek (Author) , Grotzer, Michael (Author) , Meter, Timothy van (Author) , Monoranu, Camelia Maria (Author) , Felsberg, Jörg (Author) , Reifenberger, Guido (Author) , Snuderl, Matija (Author) , Forrester, Lynn Ann (Author) , Koster, Jan (Author) , Versteeg, Rogier (Author) , Volckmann, Richard (Author) , Sluis, Peter van (Author) , Wolf, Stephan (Author) , Mikkelsen, Tom (Author) , Gajjar, Amar (Author) , Aldape, Kenneth (Author) , Moore, Andrew S. (Author) , Taylor, Michael D. (Author) , Jones, Chris (Author) , Jabado, Nada (Author) , Karajannis, Matthias A. (Author) , Eils, Roland (Author) , Schlesner, Matthias (Author) , Lichter, Peter (Author) , Deimling, Andreas von (Author) , Pfister, Stefan (Author) , Ellison, David W. (Author) , Korshunov, Andrey (Author) , Kool, Marcel (Author)
Format: Article (Journal)
Language:English
Published: February 25, 2016
In: Cell
Year: 2016, Volume: 164, Issue: 5, Pages: 1060-1072
ISSN:1097-4172
DOI:10.1016/j.cell.2016.01.015
Online Access:Verlag, Volltext: http://dx.doi.org/10.1016/j.cell.2016.01.015
Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0092867416000556
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Author Notes:Dominik Sturm, Brent A. Orr, Umut H. Toprak, Volker Hovestadt, David T.W. Jones, David Capper, Martin Sill, Ivo Buchhalter, Paul A. Northcott, Irina Leis, Marina Ryzhova, Christian Koelsche, Elke Pfaff, Sariah J. Allen, Gnanaprakash Balasubramanian, Barbara C. Worst, Kristian W. Pajtler, Sebastian Brabetz, Pascal D. Johann, Felix Sahm, Jüri Reimand, Alan Mackay, Diana M. Carvalho, Marc Remke, Joanna J. Phillips, Arie Perry, Cynthia Cowdrey, Rachid Drissi, Maryam Fouladi, Felice Giangaspero, Maria Łastowska, Wiesława Grajkowska, Wolfram Scheurlen, Torsten Pietsch, Christian Hagel, Johannes Gojo, Daniela Lötsch, Walter Berger, Irene Slavc, Christine Haberler, Anne Jouvet, Stefan Holm, Silvia Hofer, Marco Prinz, Catherine Keohane, Iris Fried, Christian Mawrin, David Scheie, Bret C. Mobley, Matthew J. Schniederjan, Mariarita Santi, Anna M. Buccoliero, Sonika Dahiya, Christof M. Kramm, André O. von Bueren, Katja von Hoff, Stefan Rutkowski, Christel Herold-Mende, Michael C. Frühwald, Till Milde, Martin Hasselblatt, Pieter Wesseling, Jochen Rößler, Ulrich Schüller, Martin Ebinger, Jens Schittenhelm, Stephan Frank, Rainer Grobholz, Istvan Vajtai, Volkmar Hans, Reinhard Schneppenheim, Karel Zitterbart, V. Peter Collins, Eleonora Aronica, Pascale Varlet, Stephanie Puget, Christelle Dufour, Jacques Grill, Dominique Figarella-Branger, Marietta Wolter, Martin U. Schuhmann, Tarek Shalaby, Michael Grotzer, Timothy van Meter, Camelia-Maria Monoranu, Jörg Felsberg, Guido Reifenberger, Matija Snuderl, Lynn Ann Forrester, Jan Koster, Rogier Versteeg, Richard Volckmann, Peter van Sluis, Stephan Wolf, Tom Mikkelsen, Amar Gajjar, Kenneth Aldape, Andrew S. Moore, Michael D. Taylor, Chris Jones, Nada Jabado, Matthias A. Karajannis, Roland Eils, Matthias Schlesner, Peter Lichter, Andreas von Deimling, Stefan M. Pfister, David W. Ellison, Andrey Korshunov, and Marcel Kool

MARC

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245 1 0 |a New brain tumor entities emerge from molecular classification of CNS-PNETs  |c Dominik Sturm, Brent A. Orr, Umut H. Toprak, Volker Hovestadt, David T.W. Jones, David Capper, Martin Sill, Ivo Buchhalter, Paul A. Northcott, Irina Leis, Marina Ryzhova, Christian Koelsche, Elke Pfaff, Sariah J. Allen, Gnanaprakash Balasubramanian, Barbara C. Worst, Kristian W. Pajtler, Sebastian Brabetz, Pascal D. Johann, Felix Sahm, Jüri Reimand, Alan Mackay, Diana M. Carvalho, Marc Remke, Joanna J. Phillips, Arie Perry, Cynthia Cowdrey, Rachid Drissi, Maryam Fouladi, Felice Giangaspero, Maria Łastowska, Wiesława Grajkowska, Wolfram Scheurlen, Torsten Pietsch, Christian Hagel, Johannes Gojo, Daniela Lötsch, Walter Berger, Irene Slavc, Christine Haberler, Anne Jouvet, Stefan Holm, Silvia Hofer, Marco Prinz, Catherine Keohane, Iris Fried, Christian Mawrin, David Scheie, Bret C. Mobley, Matthew J. Schniederjan, Mariarita Santi, Anna M. Buccoliero, Sonika Dahiya, Christof M. Kramm, André O. von Bueren, Katja von Hoff, Stefan Rutkowski, Christel Herold-Mende, Michael C. Frühwald, Till Milde, Martin Hasselblatt, Pieter Wesseling, Jochen Rößler, Ulrich Schüller, Martin Ebinger, Jens Schittenhelm, Stephan Frank, Rainer Grobholz, Istvan Vajtai, Volkmar Hans, Reinhard Schneppenheim, Karel Zitterbart, V. Peter Collins, Eleonora Aronica, Pascale Varlet, Stephanie Puget, Christelle Dufour, Jacques Grill, Dominique Figarella-Branger, Marietta Wolter, Martin U. Schuhmann, Tarek Shalaby, Michael Grotzer, Timothy van Meter, Camelia-Maria Monoranu, Jörg Felsberg, Guido Reifenberger, Matija Snuderl, Lynn Ann Forrester, Jan Koster, Rogier Versteeg, Richard Volckmann, Peter van Sluis, Stephan Wolf, Tom Mikkelsen, Amar Gajjar, Kenneth Aldape, Andrew S. Moore, Michael D. Taylor, Chris Jones, Nada Jabado, Matthias A. Karajannis, Roland Eils, Matthias Schlesner, Peter Lichter, Andreas von Deimling, Stefan M. Pfister, David W. Ellison, Andrey Korshunov, and Marcel Kool 
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520 |a 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. 
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856 4 0 |u http://www.sciencedirect.com/science/article/pii/S0092867416000556  |x Verlag  |x Resolving-System  |3 Volltext  |7 1 
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