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病例报告:成人 IDH 突变型脑干胶质瘤的临床病理和遗传学特征:五例报告。

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

机构信息

Department of Neuro-Oncology, Guangdong Sanjiu Brain Hospital, Guangzhou, China.

State Key Laboratory of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, China.

出版信息

Pathol Oncol Res. 2022 Aug 4;28:1610408. doi: 10.3389/pore.2022.1610408. eCollection 2022.

Abstract

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

摘要

成人脑干胶质瘤是一种罕见的中枢神经系统肿瘤,属于一组异质性肿瘤。成人脑干胶质瘤中体细胞突变并不常见,相关的临床研究也较少。在这里,我们报道了 5 例与脑干胶质瘤相关的 突变患者,包括 4 例 R132H 突变和 1 例 R132G 突变。所有患者均接受了调强适形放疗(IMRT)联合替莫唑胺(TMZ)治疗。1 例患者死亡,1 例复发,3 例患者存活至今。这些病例均携带致病性的 突变,其中 1 例携带 突变,1 例携带 突变。此外,我们还发现了一些与预后不良相关的基因,如 扩增。这些发现表明,在诊断工作流程中应考虑 -突变型脑干胶质瘤的特定特征,以制定治疗方案并改善预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a54/9385964/aabc4c49afe8/pore-28-1610408-g001.jpg

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