Malnati Brain Tumor Institute at the Robert H. Lurie Comprehensive Cancer Center.
Department of Neurology at Northwestern University, Chicago, IL.
Neurologist. 2024 Jul 1;29(4):250-253. doi: 10.1097/NRL.0000000000000572.
Solitary fibrous tumors (SFTs) of the central nervous system represent a unique entity with limited data on best treatment practices.
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.
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.
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。
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。
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。