| Literature DB >> 26919435 |
Dominik Sturm1,2, Brent A Orr3, Umut H Toprak4, Volker Hovestadt5, David T W Jones1, David Capper6,7, Martin Sill8, Ivo Buchhalter4, Paul A Northcott1, Irina Leis6, Marina Ryzhova9, Christian Koelsche6,7, Elke Pfaff1,2, Sariah J Allen3, Gnanaprakash Balasubramanian10, Barbara C Worst1,2, Kristian W Pajtler1, Sebastian Brabetz1, Pascal D Johann1,2, Felix Sahm6,7, Jüri Reimand11,12, Alan Mackay13, Diana M Carvalho13, Marc Remke14, Joanna J Phillips15,16,17, Arie Perry15,16,17, Cynthia Cowdrey15, Rachid Drissi18, Maryam Fouladi18, Felice Giangaspero19,20, Maria Łastowska21, Wiesława Grajkowska21, Wolfram Scheurlen22, Torsten Pietsch23, Christian Hagel24, Johannes Gojo25,26, Daniela Lötsch26, Walter Berger26, Irene Slavc25, Christine Haberler27, Anne Jouvet28, Stefan Holm29, Silvia Hofer30, Marco Prinz31, Catherine Keohane32, Iris Fried33, Christian Mawrin34, David Scheie35, Bret C Mobley36, Matthew J Schniederjan37, Mariarita Santi38, Anna M Buccoliero39, Sonika Dahiya40, Christof M Kramm41, André O von Bueren41, Katja von Hoff42, Stefan Rutkowski42, Christel Herold-Mende43, Michael C Frühwald44, Till Milde2,45, Martin Hasselblatt46, Pieter Wesseling47,48, Jochen Rößler49, Ulrich Schüller50, Martin Ebinger51, Jens Schittenhelm52, Stephan Frank53, Rainer Grobholz54, Istvan Vajtai55, Volkmar Hans56, Reinhard Schneppenheim42, Karel Zitterbart57, V Peter Collins58, Eleonora Aronica59, Pascale Varlet60, Stephanie Puget61, Christelle Dufour62, Jacques Grill62, Dominique Figarella-Branger63, Marietta Wolter64, Martin U Schuhmann65, Tarek Shalaby66, Michael Grotzer66, Timothy van Meter67, Camelia-Maria Monoranu68, Jörg Felsberg64, Guido Reifenberger64, Matija Snuderl69, Lynn Ann Forrester70, Jan Koster71, Rogier Versteeg71, Richard Volckmann71, Peter van Sluis71, Stephan Wolf72, Tom Mikkelsen73, Amar Gajjar74, Kenneth Aldape75, Andrew S Moore76, Michael D Taylor14, Chris Jones13, Nada Jabado77, Matthias A Karajannis78, Roland Eils4,79,80, Matthias Schlesner4, Peter Lichter5,80, Andreas von Deimling6,7, Stefan M Pfister1,2, David W Ellison3, Andrey Korshunov6,7, Marcel Kool1.
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.Entities:
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Year: 2016 PMID： 26919435 PMCID： PMC5139621 DOI： 10.1016/j.cell.2016.01.015
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 41.582