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


Dominik Sturm
Brent A. Orr
Umut H. Toprak
Volker Hovestadt
David TW 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 Lastowska
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, Henry Ford Health SystemFollow
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
Marcel Kool

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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.

Medical Subject Headings

Amino Acid Sequence; Central Nervous System Neoplasms; Child; DNA Methylation; Forkhead Transcription Factors; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Humans; Molecular Sequence Data; Neuroectodermal Tumors; Proto-Oncogene Proteins; Repressor Proteins; Signal Transduction; Tumor Suppressor Proteins

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