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01-06-2020 | Ependymoma | Correspondence

Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation

Authors: David Castel, Thomas Kergrohen, Arnault Tauziède-Espariat, Alan Mackay, Samia Ghermaoui, Emmanuèle Lechapt, Stefan M. Pfister, Christof M. Kramm, Nathalie Boddaert, Thomas Blauwblomme, Stéphanie Puget, Kévin Beccaria, Chris Jones, David T. W. Jones, Pascale Varlet, Jacques Grill, Marie-Anne Debily

Published in: Acta Neuropathologica | Issue 6/2020

Excerpt

Diffuse midline gliomas (DMG) H3 K27M-mutant was introduced in the 2016 WHO Classification of Tumors of the Central Nervous System, unifying diffuse intrinsic pontine gliomas (DIPG) and gliomas from the thalamus and spinal cord harboring a histone H3-K27M mutation leading to Polycomb Repressor Complex 2 (PRC2) inhibition [7]. These gliomas are relatively much more common in the pediatric than the adult population, and patients show a dismal prognosis with a median overall survival below 1 year [11]. …

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Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D et al (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474. https://doi.org/10.1038/nature26000 CrossRefPubMedPubMedCentral

Castel D, Philippe C, Calmon R, Le Dret L, Truffaux N, Boddaert N et al (2015) Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes. Acta Neuropathol 130:815–827. https://doi.org/10.1007/s00401-015-1478-0 CrossRefPubMedPubMedCentral

Castel D, Philippe C, Kergrohen T, Sill M, Merlevede J, Barret E et al (2018) Transcriptomic and epigenetic profiling of ‘diffuse midline gliomas, H3 K27M-mutant’ discriminate two subgroups based on the type of histone H3 mutated and not supratentorial or infratentorial location. Acta Neuropathol Commun 6:117. https://doi.org/10.1186/s40478-018-0614-1 CrossRefPubMedPubMedCentral

Hübner J-M, Müller T, Papageorgiou DN, Mauermann M, Krijgsveld J, Russell RB et al (2019) EZHIP/CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma. Neurooncology. https://doi.org/10.1093/neuonc/noz058 CrossRef

Jain SU, Do TJ, Lund PJ, Rashoff AQ, Diehl KL, Cieslik M et al (2019) PFA ependymoma-associated protein EZHIP inhibits PRC2 activity through a H3 K27M-like mechanism. Nat Commun 10:2146. https://doi.org/10.1038/s41467-019-09981-6 CrossRefPubMedPubMedCentral

Korshunov A, Capper D, Reuss D, Schrimpf D, Ryzhova M, Hovestadt V et al (2016) Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity. Acta Neuropathol 131:137–146. https://doi.org/10.1007/s00401-015-1493-1 CrossRefPubMed

Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK et al (2016) The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol 131:803–820. https://doi.org/10.1007/s00401-016-1545-1 CrossRefPubMed

Mackay A, Burford A, Molinari V, Jones DTW, Izquierdo E, Brouwer-Visser J et al (2018) Molecular, pathological, radiological, and immune profiling of non-brainstem pediatric high-grade glioma from the HERBY phase II randomized trial. Cancer Cell 33:829.e5–842.e5. https://doi.org/10.1016/j.ccell.2018.04.004 CrossRef

Pajtler KW, Wen J, Sill M, Lin T, Orisme W, Tang B et al (2018) Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas. Acta Neuropathol 136:211–226. https://doi.org/10.1007/s00401-018-1877-0 CrossRefPubMedPubMedCentral

10.

Panwalkar P, Clark J, Ramaswamy V, Hawes D, Yang F, Dunham C et al (2017) Immunohistochemical analysis of H3K27me3 demonstrates global reduction in group-A childhood posterior fossa ependymoma and is a powerful predictor of outcome. Acta Neuropathol 134:705–714. https://doi.org/10.1007/s00401-017-1752-4 CrossRefPubMedPubMedCentral

11.

Puget S, Beccaria K, Blauwblomme T, Roujeau T, James S, Grill J et al (2015) Biopsy in a series of 130 pediatric diffuse intrinsic Pontine gliomas. Childs Nerv Syst 31:1773–1780. https://doi.org/10.1007/s00381-015-2832-1 CrossRefPubMed

12.

Robison NJ, Kieran MW (2014) Diffuse intrinsic pontine glioma: a reassessment. J Neurooncol 119:7–15. https://doi.org/10.1007/s11060-014-1448-8 CrossRefPubMed

13.

Sloan EA, Cooney T, Oberheim Bush NA, Buerki R, Taylor J, Clarke JL et al (2019) Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas. Acta Neuropathol 138:877–881. https://doi.org/10.1007/s00401-019-02072-2 CrossRefPubMedPubMedCentral

14.

Tauziède-Espariat A, Debily M-A, Castel D, Grill J, Puget S, Sabel M et al (2019) An integrative radiological, histopathological and molecular analysis of pediatric pontine histone-wildtype glioma with MYCN amplification (HGG-MYCN). Acta Neuropathol Commun 7:87. https://doi.org/10.1186/s40478-019-0738-y CrossRefPubMed

15.

Worst BC, van Tilburg CM, Balasubramanian GP, Fiesel P, Witt R, Freitag A et al (2016) Next-generation personalised medicine for high-risk paediatric cancer patients—the INFORM pilot study. Eur J Cancer 65:91–101. https://doi.org/10.1016/j.ejca.2016.06.009 CrossRefPubMed

16.

Wu G, Diaz AK, Paugh BS, Rankin SL, Ju B, Li Y et al (2014) The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet 46:444–450. https://doi.org/10.1038/ng.2938 CrossRefPubMedPubMedCentral

Title: Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation
Authors: David Castel
Thomas Kergrohen
Arnault Tauziède-Espariat
Alan Mackay
Samia Ghermaoui
Emmanuèle Lechapt
Stefan M. Pfister
Christof M. Kramm
Nathalie Boddaert
Thomas Blauwblomme
Stéphanie Puget
Kévin Beccaria
Chris Jones
David T. W. Jones
Pascale Varlet
Jacques Grill
Marie-Anne Debily
Publication date: 01-06-2020
Publisher: Springer Berlin Heidelberg
Keywords: Ependymoma
Glioma
Glioma
Ependymoma
Ependymoma
Glioma
Published in: Acta Neuropathologica / Issue 6/2020
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-020-02142-w

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation

Excerpt

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Excerpt

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