Detection of Glioma-Related Hotspot Mutations Through Sequencing of Cerebrospinal Fluid (CSF)-Derived Circulating Tumor DNA: A Pilot Study on CSF-Based Liquid Biopsy for Primary Spinal Cord Astrocytoma

Lei Cheng; Wanru Duan; Jian Guan; Kai Wang; Zhenlei Liu; Xingwen Wang; Zuowei Wang; Hao Wu; Zan Chen; Fengzeng Jian

doi:10.14245/ns.2346210.105

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자료유형: 학술저널

저자정보: Lei Cheng (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Wanru Duan (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Jian Guan (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Kai Wang (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Zhenlei Liu (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Xingwen Wang (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Zuowei Wang (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Hao Wu (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Zan Chen (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University) Fengzeng Jian (Department of Neurosurgery Xuanwu Hospital China International Neuroscience Institute Capital Medical University)

저널정보: 대한척추신경외과학회 Neurospine Neurospine 제20권 제2호

발행연도: 2023.6

수록면: 701 - 708 (8page)

DOI: 10.14245/ns.2346210.105

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Objective: Although cerebrospinal fluid (CSF)-based liquid biopsy was proved to be practi cal in molecular analysis of intracranial gliomas, liquid biopsy of primary intramedullary astrocytoma was rarely reported. Given the distinct genomic profiles between primary in tramedullary glioma and intracranial astrocytoma, whether the feasibility of CSF-based molecular analysis of intracranial gliomas can be replicated in primary spinal cord astrocy toma needs to be investigated. The aim of this pilot study is to evaluate the feasibility of mo lecular analysis of primary intramedullary astrocytoma through sequencing CSF-derived circulating tumor DNA (ctDNA). Methods: Two grade IV diffuse midline gliomas, 1 grade II, and 1 grade I astrocytoma were included. Intraoperative collection of peripheral blood and CSF samples was conducted, along with postoperative collection of matched tumor tissues. A panel covering the 1,021 most common driver genes of solid tumors was used for targeted DNA sequencing. Results: CSF-derived ctDNA was detected in 3 CSF samples (2 grade IV diffuse midline gli omas and 1 grade I astrocytoma), 5 mutations were found in both tumor tissues and CSF samples, while 11 mutations and 20 mutations were detected exclusively in tumor tissues and CSF samples, respectively. Importantly, hotspot genetic alterations, including H3F3A K28M, TP53, and ATRX, were identified in CSF and the average mutant allele frequency was often higher in CSF than in tumor tissues. Conclusion: CSF-based liquid biopsy showed potential feasibility for molecular analysis of primary intramedullary astrocytoma through sequencing of ctDNA. This approach may as sist in diagnosis and prognostic evaluation of this rare spinal cord tumor.

#Astrocytoma #Circulating tumor DNA #Spinal cord #Intramedullary #Liquid biopsy

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