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

Research output: Contribution to journalJournal articleResearchpeer-review

  • Dominik Sturm
  • Brent A Orr
  • Umut H Toprak
  • Volker Hovestadt
  • David T W 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 David Johann
  • Felix Sahm
  • Jüri Reimand
  • Alan sim Mackay
  • Diana M Carvalho
  • Marc Remke
  • Joanna J Phillips
  • Arie Perry
  • Cynthia Cowdrey
  • Rachid Drissi
  • Maryam Fouladi
  • Felice Giangaspero
  • Maria Łastowska
  • 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
  • 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
  • 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

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.

Original languageEnglish
JournalCell
Volume164
Issue number5
Pages (from-to)1060-72
Number of pages13
ISSN0092-8674
DOIs
Publication statusPublished - 2016

    Research areas

  • 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, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't

ID: 176337014