AUTHOR=Zhou Jiangfen , Lai Mingyao , Ni Yang , Li Shaoqun , Zhen Junjie , Du Furong , Zhang Xing , Song Chao , Cai Linbo 

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

JOURNAL=Pathology and Oncology Research

VOLUME=28

YEAR=2022

URL=https://www.por-journal.com/journals/pathology-and-oncology-research/articles/10.3389/pore.2022.1610408

DOI=10.3389/pore.2022.1610408

ISSN=1532-2807

ABSTRACT=<p>Adult brainstem gliomas are rare central nervous system tumors that represent a heterogeneous group of tumors. Somatic <italic>IDH</italic> mutations are uncommon in adult brainstem gliomas and there are few relevant clinical studies. Here, we reported five patients with <italic>IDH1</italic> mutations associated with brainstem gliomas, including four cases of <italic>IDH1</italic> 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 <italic>TP53</italic>, among whom 1 harbored <italic>ATRX</italic> mutation and 1 had <italic>H3K27M</italic> mutation. Moreover, we also found some genes related to a worse prognosis, such as <italic>CDK4/6</italic> amplification. These findings demonstrate that the specific characteristics of <italic>IDH</italic>-mutant brainstem gliomas should be considered in diagnostic workflows to make therapeutic regimens and improve the prognosis.</p>