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authors
- 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
keywords
- CNS-PNETs
- DNA Methylation
- Tumor
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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