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Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases

Adult brainstem gliomas are rare central nervous system tumors that represent a heterogeneous group of tumors. Somatic IDH mutations are uncommon in adult brainstem gliomas and there are few relevant clinical studies. Here, we reported five patients with IDH1 mutations associated with brainstem glio...

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Autores principales: Zhou, Jiangfen, Lai, Mingyao, Ni, Yang, Li, Shaoqun, Zhen, Junjie, Du, Furong, Zhang, Xing, Song, Chao, Cai, Linbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9385964/
https://www.ncbi.nlm.nih.gov/pubmed/35991838
http://dx.doi.org/10.3389/pore.2022.1610408
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author Zhou, Jiangfen
Lai, Mingyao
Ni, Yang
Li, Shaoqun
Zhen, Junjie
Du, Furong
Zhang, Xing
Song, Chao
Cai, Linbo
author_facet Zhou, Jiangfen
Lai, Mingyao
Ni, Yang
Li, Shaoqun
Zhen, Junjie
Du, Furong
Zhang, Xing
Song, Chao
Cai, Linbo
author_sort Zhou, Jiangfen
collection PubMed
description Adult brainstem gliomas are rare central nervous system tumors that represent a heterogeneous group of tumors. Somatic IDH mutations are uncommon in adult brainstem gliomas and there are few relevant clinical studies. Here, we reported five patients with IDH1 mutations associated with brainstem gliomas, including four cases of IDH1 R132H mutations and one case of R132G mutation. All patients were treated with focal intensity-modulated radiation therapy (IMRT) with concurrent temozolomide (TMZ). One patient died, one relapsed, and three survived to date. All these cases carried a pathogenic variant of TP53, among whom 1 harbored ATRX mutation and 1 had H3K27M mutation. Moreover, we also found some genes related to a worse prognosis, such as CDK4/6 amplification. These findings demonstrate that the specific characteristics of IDH-mutant brainstem gliomas should be considered in diagnostic workflows to make therapeutic regimens and improve the prognosis.
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spelling pubmed-93859642022-08-19 Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases Zhou, Jiangfen Lai, Mingyao Ni, Yang Li, Shaoqun Zhen, Junjie Du, Furong Zhang, Xing Song, Chao Cai, Linbo Pathol Oncol Res Pathology and Oncology Archive Adult brainstem gliomas are rare central nervous system tumors that represent a heterogeneous group of tumors. Somatic IDH mutations are uncommon in adult brainstem gliomas and there are few relevant clinical studies. Here, we reported five patients with IDH1 mutations associated with brainstem gliomas, including four cases of IDH1 R132H mutations and one case of R132G mutation. All patients were treated with focal intensity-modulated radiation therapy (IMRT) with concurrent temozolomide (TMZ). One patient died, one relapsed, and three survived to date. All these cases carried a pathogenic variant of TP53, among whom 1 harbored ATRX mutation and 1 had H3K27M mutation. Moreover, we also found some genes related to a worse prognosis, such as CDK4/6 amplification. These findings demonstrate that the specific characteristics of IDH-mutant brainstem gliomas should be considered in diagnostic workflows to make therapeutic regimens and improve the prognosis. Frontiers Media S.A. 2022-08-04 /pmc/articles/PMC9385964/ /pubmed/35991838 http://dx.doi.org/10.3389/pore.2022.1610408 Text en Copyright © 2022 Zhou, Lai, Ni, Li, Zhen, Du, Zhang, Song and Cai. 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 Pathology and Oncology Archive
Zhou, Jiangfen
Lai, Mingyao
Ni, Yang
Li, Shaoqun
Zhen, Junjie
Du, Furong
Zhang, Xing
Song, Chao
Cai, Linbo
Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases
title Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases
title_full Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases
title_fullStr Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases
title_full_unstemmed Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases
title_short Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases
title_sort case report: clinicopathological and genetic features of idh-mutant brainstem glioma in adults: report of five cases
topic Pathology and Oncology Archive
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9385964/
https://www.ncbi.nlm.nih.gov/pubmed/35991838
http://dx.doi.org/10.3389/pore.2022.1610408
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