Back to Search Start Over

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

Authors :
Jiangfen Zhou
Mingyao Lai
Yang Ni
Shaoqun Li
Junjie Zhen
Furong Du
Xing Zhang
Chao Song
Linbo Cai
Source :
Pathology and Oncology Research, Vol 28 (2022)
Publication Year :
2022
Publisher :
Frontiers Media S.A., 2022.

Abstract

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.

Details

Language :
English
ISSN :
15322807
Volume :
28
Database :
Directory of Open Access Journals
Journal :
Pathology and Oncology Research
Publication Type :
Academic Journal
Accession number :
edsdoj.2a6089dafb1e44c79d784e9414e2593a
Document Type :
article
Full Text :
https://doi.org/10.3389/pore.2022.1610408