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

Dominik Sturm 1 Brent A.Orr 2 Umut H.Toprak 1 Volker Hovestadt 1 David T. W. Jones 1 David Capper 3 Martin Sill 1 Ivo Buchhalter 1 Paul A.Northcott 1 Irina Leis 1 Marina Ryzhova 1 Christian Koelsche 4 Elke Pfaff 1 Sariah J.Allen 2 Gnanaprakash Balasubramanian 1 Barbara C. Worst 1 Kristian W. Pajtler 1 Sebastian Brabetz 1 Pascal D. Johann 1 Felix Sahm 1 Jüri Reimand 5 Alan Mackay 6 Diana M. Carvalho 6 Marc Remke 5 Joanna J. Phillips 7 Arie Perry 7 Cynthia Cowdrey 7 Rachid Drissi 8 Maryam Fouladi 8 Felice Giangaspero 9 Maria Łastowska 10 Wiesława Grajkowska 10 Wolfram Scheurlen 11 Torsten Pietsch 12 Christian Hagel 13 Johannes Gojo 14 Daniela Lötsch 14 Walter Berger 14 Irene Slavc 14 Christine Haberler 14 Anne Jouvet 15 Stefan Holm 16 Silvia Hofer 17 Marco Prinz 18 Catherine Keohane 19 Iris Fried 20 Christian Mawrin 21 David Scheie 22 Bret C. Mobley 23 Matthew J.Schniederjan 24 Mariarita Santi 25 Anna M. Buccoliero 26 Sonika Dahiya 27 Christof M. Kramm 28 André O. von Bueren 28 Katja von Hoff 13 Stefan Rutkowski 13 Christel Herold-Mende 1 Michael C. Frühwald 29 Till Milde 1 Martin Hasselblatt 30 Pieter Wesseling 31 Jochen Rößler 32 Ulrich Schüller 33 Martin Ebinger 34 Jens Schittenhelm 34 Stephan Frank 35 Rainer Grobholz 36 Istvan Vajtai 37 Volkmar Hans 38 Reinhard Schneppenheim 13 Karel Zitterbart 39 Peter V. Collins 40 Eleonora Aronica 41 Pascale Varlet 42 Jacques Grill 43, 44 Stephanie Puget 45 Christelle Dufour 44, 43 Dominique Figarella-Branger 46 Marietta Wolter 33 Martin U. Schuhmann 33 Tarek Shalaby 47 Michael Grotzer 47 Timothy van Meter 48 Camelia-Maria Monoranu 49 Jörg Felsberg 50 Guido Reifenberger 50 Matija Snuder 50 Lynn Ann Forrester 51 Jan Koster 41 Rogier Versteeg 52 Richard Volckmann 52 Peter van Sluis 52 Stephan Wolf 1 Tom Mikkelsen 53 Amar Gajjar 2 Kenneth Aldape 54 Andrew S. Moore 55 Michael D. Taylor 5 Chris Jones 6 Nada Jabado 56 Matthias A. Karajannis 51 Roland Eils 1 Matthias Schlesner 1 Peter Lichter 1 Andreas von Deimling 2 Stefan M. Pfister 1 David W. Ellison 2 Andrey Korshunov 1 Marcel Kool 1
Abstract : 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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https://hal-amu.archives-ouvertes.fr/hal-01480124
Contributor : Dominique Figarella-Branger <>
Submitted on : Monday, March 20, 2017 - 9:31:53 AM
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Dominik Sturm, Brent A.Orr, Umut H.Toprak, Volker Hovestadt, David T. W. Jones, et al.. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. Cell, Elsevier, 2016, 164, pp.1060-1072. ⟨10.1016/j.cell.2016.01.015⟩. ⟨hal-01480124⟩

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