Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 May;32(3):e13039.
doi: 10.1111/bpa.13039. Epub 2021 Dec 1.

Deciphering the genetic and epigenetic landscape of pediatric bithalamic tumors

Arnault Tauziède-Espariat  1 , Marie-Anne Debily  2   3 , David Castel  2   4 , Jacques Grill  2   4 , Stéphanie Puget  5 , Alexandre Roux  6 , Raphaël Saffroy  7 , Guillaume Gauchotte  8 , Ellen Wahler  1 , Lauren Hasty  1 , Fabrice Chrétien  1 , Emmanuèle Lechapt  1 , Volodia Dangouloff-Ros  9 , Nathalie Boddaert  9 , Philipp Sievers  10   11 , Pascale Varlet  1
Affiliations

Deciphering the genetic and epigenetic landscape of pediatric bithalamic tumors

Arnault Tauziède-Espariat et al. Brain Pathol. 2022 May.

Abstract

Pediatric bithalamic gliomas encompass several histomolecular tumoral types from benign to malignant and underlines the central role of a comprehensive neuropathological review, including immunohistochemistry, genetic, and epigenetic analyses, to achieve an accurate diagnosis.

Keywords: bithalamic; landscape; pediatric..

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no conflict of interest directly related to the topic of this article.

Figures

FIGURE 1
FIGURE 1
Distribution of histomolecular characteristics of the tumors within the cohort. (A) t‐distributed stochastic neighbor embedding (t‐SNE) analysis of DNA methylation profiles of nine of the investigated tumors alongside selected reference samples. Reference DNA methylation classes: low‐grade glioma, MYB (LGG_MYB); low‐grade glioma, dysembryoplastic neuroepithelial tumor (DNET); low‐grade glioma, subclass midline pilocytic astrocytoma (PA_MID); low‐grade glioma, subclass posterior fossa pilocytic astrocytoma (PA_PF); low‐grade glioma, ganglioglioma (GG); low‐grade glioma, subclass hemispheric pilocytic astrocytoma and ganglioglioma (PA/GG); diffuse midline glioma H3 K27 M mutant (DMG_K27); diffuse midline glioma EGFR_altered (DMG_EGFR); glioblastoma, IDH wild type, H3.3 G34 mutant (GBM_G34); pediatric glioblastoma, IDH wild type, subclass MYCN (GBM_pedMYCN); glioblastoma, IDH wild type, subclass RTK1 (GBM_RTK1); glioblastoma, IDH wild type, subclass RTK2 (GBM_RTK2); pediatric glioblastoma, IDH wild type, subclass RTK1 (GBM_pedRTK1); pediatric glioblastoma, IDH wild type, subclass RTK2 (GBM_pedRTK2); glioblastoma, IDH wild type, subclass mesenchymal (GBM_MES). (B) The integrative histopathological, genetic, and epigenetic analyses identified six diffuse midline gliomas (DMG), EGFR‐altered (26.3%); two DMG, H3K27‐altered (with H3K27 M mutation) (10.5%); two DMG, H3K27‐WT, with EZHIP overexpression (10.5%); two pediatric glioblastomas (GBM), RTK2 subtype (10.5%); two high‐grade gliomas, not elsewhere classified (NEC) IDH‐ and histones‐WT (10.5%); two pilocytic astrocytomas (PA) (10.5%); one pediatric glioblastoma, MYCN‐amplified (5.3%); one ganglioglioma (GG), grade 1, BRAF‐mutant (5.3%); one angiocentric glioma (AG), with MYB:QKI fusion (5.3%); and one circumscribed glioma, BRAF and H3K27‐mutant (5.3%).
See this image and copyright information in PMC

References

    1. Castel D, Kergrohen T, Tauziède‐Espariat A, Mackay A, Ghermaoui S, Lechapt E, et al. Histone H3 wild‐type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3–K27M mutation. Acta Neuropathol. 2020;139(6):1109–13. - PubMed
    1. Mondal G, Lee JC, Ravindranathan A, Villanueva‐Meyer JE, Tran QT, Allen SJ, et al. Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition. Acta Neuropathol. 2020;139(6):1071–88. - PMC - PubMed
    1. Sievers P, Sill M, Schrimpf D, Stichel D, Reuss DE, Sturm D, et al. A subset of pediatric‐type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR. Neuro‐Oncol. 2021;23(1):34–43. - PMC - PubMed
    1. Broniscer A, Hwang SN, Chamdine O, Lin T, Pounds S, Onar‐Thomas A, et al. Bithalamic gliomas may be molecularly distinct from their unilateral high‐grade counterparts. Brain Pathol. 2018;28(1):112–20. - PMC - PubMed
    1. Wefers AK, Stichel D, Schrimpf D, Coras R, Pages M, Tauziède‐Espariat A, et al. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course. Acta Neuropathol. 2020;139(1):193–209. - PMC - PubMed

Publication types