Top

Published in:

Open Access 01-12-2024 | Letter to the Editor

CNS embryonal tumour with concomitant novel BRD4::CTRC1 fusion and BCOR internal tandem duplication – evidence for synergism and non-mutually exclusive alterations in CNS embryonal tumours

Authors: Sze Jet Aw, Enrica Ee Kar Tan, Sharon Yin Yee Low, Chik Hong Kuick, Jian Yuan Goh, Kenneth Tou En Chang

Published in: Acta Neuropathologica Communications | Issue 1/2024

Excerpt

Central nervous system (CNS) embryonal tumours Not Elsewhere Classified/Not Otherwise Specified (NEC/NOS) is a category of CNS embryonal tumours lacking genetic alterations of a defined classification group. Recently, Lebrun et al. described a patient with a CNS embryonal tumour with a BRD4::LEUTX fusion, which matched the methylation profile of ‘CNS embryonal tumour with BRD4::LEUTX fusion’ using the Heidelberg brain classifier v12.8 [1]. This follows the first case of a CNS embryonal tumour with the BRD4::LEUTX gene fusion described by Wong et al. [2]. In this report, we describe a 1-year-old girl with a CNS embryonal tumour that had a methylation profile matching to the same group. However, in our case, BRD4 was fused to CTRC1 and in addition, there was a concomitant BCOR internal tandem duplication (ITD) (see Fig. 1). …

Lebrun L, Allard-Demoustiez S, Gilis N, Van Campenhout C, Rodesch M, Roman C, Calo P, Lolli V, David P, Fricx C et al (2023) Clinicopathological and molecular characterization of a case classified by DNA–methylation profiling as CNS embryonal tumor with BRD4-LEUTX fusion. Acta Neuropathol Commun 11:46. https://doi.org/10.1186/s40478-023-01549-2CrossRefPubMedPubMedCentral

Wong M, Mayoh C, Lau LMS, Khuong-Quang DA, Pinese M, Kumar A, Barahona P, Wilkie EE, Sullivan P, Bowen-James R et al (2020) Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer. Nat Med 26:1742–1753. https://doi.org/10.1038/s41591-020-1072-4CrossRefPubMed

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

El Tekle G, Bernasocchi T, Unni AM, Bertoni F, Rossi D, Rubin MA, Theurillat JP (2021) Co-occurrence and mutual exclusivity: what cross-cancer mutation patterns can tell us. Trends Cancer 7:823–836. https://doi.org/10.1016/j.trecan.2021.04.009CrossRefPubMed

Astolfi A, Fiore M, Melchionda F, Indio V, Bertuccio SN, Pession A (2019/05) BCOR involvement in cancer. Epigenomics 11: https://doi.org/10.2217/epi-2018-0195

Brasier AR (2023) Orchestrating epigenetic readers: progress in understanding the functions of bromodomain-containing protein 4 complexes. Mol Ther Nucleic Acids 32:340–342. https://doi.org/10.1016/j.omtn.2023.03.024CrossRefPubMedPubMedCentral

Wesseling P (2021) CNS embryonal tumour NEC/NOS. In: Ellison DW (ed) Central nervous system tumours, 5th edn. International Agency for Research on Cancer, LyonCity

Title: CNS embryonal tumour with concomitant novel BRD4::CTRC1 fusion and BCOR internal tandem duplication – evidence for synergism and non-mutually exclusive alterations in CNS embryonal tumours
Authors: Sze Jet Aw
Enrica Ee Kar Tan
Sharon Yin Yee Low
Chik Hong Kuick
Jian Yuan Goh
Kenneth Tou En Chang
Publication date: 01-12-2024
Publisher: BioMed Central
Published in: Acta Neuropathologica Communications / Issue 1/2024
Electronic ISSN: 2051-5960
DOI: https://doi.org/10.1186/s40478-024-01741-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

CNS embryonal tumour with concomitant novel BRD4::CTRC1 fusion and BCOR internal tandem duplication – evidence for synergism and non-mutually exclusive alterations in CNS embryonal tumours

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 1/2024

CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas

BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion

Early inner plexiform layer thinning and retinal nerve fiber layer thickening in excitotoxic retinal injury using deep learning-assisted optical coherence tomography

Human adipose tissue-derived stem cell extracellular vesicles attenuate ocular hypertension-induced retinal ganglion cell damage by inhibiting microglia- TLR4/MAPK/NF-κB proinflammatory cascade signaling

MANF protein expression is upregulated in immune cells in the ischemic human brain and systemic recombinant MANF delivery in rat ischemic stroke model demonstrates anti-inflammatory effects

Spatial transcriptomics reveals segregation of tumor cell states in glioblastoma and marked immunosuppression within the perinecrotic niche