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Open Access 01-08-2014 | Original Paper

Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity

Authors: Andrey Korshunov, Dominik Sturm, Marina Ryzhova, Volker Hovestadt, Marco Gessi, David T. W. Jones, Marc Remke, Paul Northcott, Arie Perry, Daniel Picard, Marc Rosenblum, Manila Antonelli, Eleonora Aronica, Ulrich Schüller, Martin Hasselblatt, Adelheid Woehrer, Olga Zheludkova, Ella Kumirova, Stephanie Puget, Michael D. Taylor, Felice Giangaspero, V. Peter Collins, Andreas von Deimling, Peter Lichter, Annie Huang, Torsten Pietsch, Stefan M. Pfister, Marcel Kool

Published in: Acta Neuropathologica | Issue 2/2014

Abstract

Three histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies.

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Title: Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity
Authors: Andrey Korshunov
Dominik Sturm
Marina Ryzhova
Volker Hovestadt
Marco Gessi
David T. W. Jones
Marc Remke
Paul Northcott
Arie Perry
Daniel Picard
Marc Rosenblum
Manila Antonelli
Eleonora Aronica
Ulrich Schüller
Martin Hasselblatt
Adelheid Woehrer
Olga Zheludkova
Ella Kumirova
Stephanie Puget
Michael D. Taylor
Felice Giangaspero
V. Peter Collins
Andreas von Deimling
Peter Lichter
Annie Huang
Torsten Pietsch
Stefan M. Pfister
Marcel Kool
Publication date: 01-08-2014
Publisher: Springer Berlin Heidelberg
Published in: Acta Neuropathologica / Issue 2/2014
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-013-1228-0

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Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity

Abstract

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