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Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study

INTRODUCTION: Epithelioid glioblastoma (eGBM) is one of the rare glioblastoma (GBM) variants in the current World Health Organization (WHO) categorization of central nervous system (CNS) tumours. However, the diagnostic basis and molecular features of eGBM have not been clearly defined to date. In t...

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Autores principales: Pan, Rui, Wang, Xiaotong, Fang, Ru, Xia, Qiuyuan, Wu, Nan, Rao, Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730819/
https://www.ncbi.nlm.nih.gov/pubmed/36505786
http://dx.doi.org/10.3389/fonc.2022.980059
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author Pan, Rui
Wang, Xiaotong
Fang, Ru
Xia, Qiuyuan
Wu, Nan
Rao, Qiu
author_facet Pan, Rui
Wang, Xiaotong
Fang, Ru
Xia, Qiuyuan
Wu, Nan
Rao, Qiu
author_sort Pan, Rui
collection PubMed
description INTRODUCTION: Epithelioid glioblastoma (eGBM) is one of the rare glioblastoma (GBM) variants in the current World Health Organization (WHO) categorization of central nervous system (CNS) tumours. However, the diagnostic basis and molecular features of eGBM have not been clearly defined to date. In this study, we aimed to molecularly characterize these tumours. METHODS: The clinicopathological, molecular, and immunohistochemical characteristics of 12 cases of eGBM were investigated. RESULTS: The tumours were found to be made up of epithelioid and rhabdoid cells when examined under a microscope. Six cases (50%) harboured the BRAF V600E mutation, and NF1 mutation was detected in 2 eGBM cases (16.7%). CDKN2A/B homozygous deletion was seen in 5 cases (41.7%). TP53 mutation was recognized in 2 instances (16.7%), and TERT promoter mutation was recognized in 5 cases (41.7%). DISCUSSION: eGBM is characterized by high molecular heterogeneity and has molecular overlaps between low-grade gliomas. Moreover, rather than being a variant or entity, the biological significance of the "epithelioid" appearance may be reduced to a simply morphological pattern. In order to target the proper treatment to suitable patients, molecular stratification via genome-wide molecular profiling will be crucial.
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spelling pubmed-97308192022-12-09 Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study Pan, Rui Wang, Xiaotong Fang, Ru Xia, Qiuyuan Wu, Nan Rao, Qiu Front Oncol Oncology INTRODUCTION: Epithelioid glioblastoma (eGBM) is one of the rare glioblastoma (GBM) variants in the current World Health Organization (WHO) categorization of central nervous system (CNS) tumours. However, the diagnostic basis and molecular features of eGBM have not been clearly defined to date. In this study, we aimed to molecularly characterize these tumours. METHODS: The clinicopathological, molecular, and immunohistochemical characteristics of 12 cases of eGBM were investigated. RESULTS: The tumours were found to be made up of epithelioid and rhabdoid cells when examined under a microscope. Six cases (50%) harboured the BRAF V600E mutation, and NF1 mutation was detected in 2 eGBM cases (16.7%). CDKN2A/B homozygous deletion was seen in 5 cases (41.7%). TP53 mutation was recognized in 2 instances (16.7%), and TERT promoter mutation was recognized in 5 cases (41.7%). DISCUSSION: eGBM is characterized by high molecular heterogeneity and has molecular overlaps between low-grade gliomas. Moreover, rather than being a variant or entity, the biological significance of the "epithelioid" appearance may be reduced to a simply morphological pattern. In order to target the proper treatment to suitable patients, molecular stratification via genome-wide molecular profiling will be crucial. Frontiers Media S.A. 2022-11-24 /pmc/articles/PMC9730819/ /pubmed/36505786 http://dx.doi.org/10.3389/fonc.2022.980059 Text en Copyright © 2022 Pan, Wang, Fang, Xia, Wu and Rao https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Pan, Rui
Wang, Xiaotong
Fang, Ru
Xia, Qiuyuan
Wu, Nan
Rao, Qiu
Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study
title Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study
title_full Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study
title_fullStr Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study
title_full_unstemmed Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study
title_short Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study
title_sort epithelioid glioblastoma exhibits a heterogeneous molecular feature: a targeted next-generation sequencing study
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730819/
https://www.ncbi.nlm.nih.gov/pubmed/36505786
http://dx.doi.org/10.3389/fonc.2022.980059
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