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免疫治疗孤立性纤维瘤(血管外皮细胞瘤):一种针对罕见中枢神经系统肿瘤的独特治疗方法。

Immunotherapy for Solitary Fibrous Tumor (Hemangiopericytoma): A Unique Treatment Approach for a Rare Central Nervous System Tumor.

机构信息

Malnati Brain Tumor Institute at the Robert H. Lurie Comprehensive Cancer Center.

Department of Neurology at Northwestern University, Chicago, IL.

出版信息

Neurologist. 2024 Jul 1;29(4):250-253. doi: 10.1097/NRL.0000000000000572.

Abstract

INTRODUCTION

Solitary fibrous tumors (SFTs) of the central nervous system represent a unique entity with limited data on best treatment practices.

CASE REPORT

Here, we present a case of multiply recurrent central nervous system SFT treated with radiation and immunotherapy. Immunotherapy was chosen based on mutations of genes encoding DNA repair enzymes detected through next-generation sequencing of the tumor, DNA polymerase epsilon catalytic subunit ( POLE ) and mutL homolog 1. The use of radiation and immunotherapy led to slight shrinkage and no recurrence of the tumor for over 2 years.

CONCLUSION

The presence of somatic DNA repair enzyme gene mutations in SFT may suggest a benefit from a combination of radiotherapy and immunotherapy. This may serve as a biomarker for guiding management in patients with this rare tumor.

摘要

简介

中枢神经系统孤立性纤维瘤(SFT)是一种独特的实体瘤,关于最佳治疗方法的数据有限。

病例报告

在此,我们报告了一例多发性中枢神经系统 SFT 患者,采用放疗和免疫治疗。选择免疫治疗是基于通过肿瘤下一代测序检测到的编码 DNA 修复酶的基因突变,即 DNA 聚合酶 epsilon 催化亚基(POLE)和 mutL 同源物 1。放疗和免疫治疗的应用导致肿瘤略有缩小,2 年多来未复发。

结论

SFT 中存在体细胞 DNA 修复酶基因突变可能提示放疗和免疫治疗联合应用有益。这可能成为指导此类罕见肿瘤患者治疗的生物标志物。

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