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