免疫疗法治疗孤立性纤维瘤（血管扩张瘤）：治疗罕见中枢神经系统肿瘤的独特方法。

IF 1.1 4区医学 Q4 CLINICAL NEUROLOGY Neurologist Pub Date : 2024-07-01 DOI:10.1097/NRL.0000000000000572

Lauren Singer, Jorie Singer, Craig Horbinski, Marta Penas-Prado, Rimas V Lukas

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引用次数: 0

摘要

导言：中枢神经系统的孤立性纤维性肿瘤（SFTs）是一种独特的肿瘤：中枢神经系统的孤立性纤维性肿瘤（SFTs）是一个独特的实体，最佳治疗方法的数据有限：在此，我们介绍一例采用放射和免疫疗法治疗的多发性复发性中枢神经系统 SFT 病例。选择免疫疗法的依据是通过对肿瘤、DNA聚合酶epsilon催化亚基（POLE）和mutL同源物1进行下一代测序发现的编码DNA修复酶的基因突变。通过放射治疗和免疫治疗，肿瘤略有缩小，两年多来没有复发：结论：SFT 中存在体细胞 DNA 修复酶基因突变，这可能表明放疗和免疫疗法联合使用会使患者获益。结论：SFT 中出现的体细胞 DNA 修复酶基因突变可能提示放疗和免疫疗法联合治疗的获益，这可作为指导这种罕见肿瘤患者治疗的生物标志物。

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

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.

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来源期刊

Neurologist 医学-临床神经学

CiteScore

1.90

自引率

0.00%

发文量

151

审稿时长

2 months

期刊介绍： The Neurologist publishes articles on topics of current interest to physicians treating patients with neurological diseases. The core of the journal is review articles focusing on clinically relevant issues. The journal also publishes case reports or case series which review the literature and put observations in perspective, as well as letters to the editor. Special features include the popular "10 Most Commonly Asked Questions" and the "Patient and Family Fact Sheet," a handy tear-out page that can be copied to hand out to patients and their caregivers.