An institutional experience of genomic analysis and methylation profiling of thoracic spinal meningiomas.

IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY
Prabhath Mannam, Jimin Shin, Nathan K Leclair, Patrick Halloran, Arijit Chakraborty, Qian Wu, Bruce Chozick, Hilary Onyiuke, Ian T McNeill, Ketan Bulsara
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引用次数: 0

Abstract

Objective: Spinal meningiomas are less frequently diagnosed than intracranial meningiomas. While recent advancements in tumor biology have identified key driver genes in spinal meningiomas through targeted sequencing, few studies have yet to characterize the genomic profiles of these tumors together with their methylation signatures. In this study, we present our institutional experience of a combined genomic and epigenetic analysis of 8 thoracic spinal meningiomas.

Methods: We performed targeted genomic sequencing and DNA methylation profiling on 8 primary spinal meningiomas. We further collected relevant clinical information and tumor imaging through retrospective chart review.

Results: All tumor samples were characterized as WHO Grade I intradural extramedullary meningiomas localized to the thoracic spine. Targeted genomic sequencing revealed mutations in meningioma-driver genes NF2 (62.5%), AKT1 (12.5%), and SMARCB1 (25%), in addition to several mutations in genes involved in various signaling pathways. DNA methylation profiling classified 6 samples with a benign signature and 2 with an intermediate signature. All patients were treated through surgical excision of the tumor, and clinical follow-up and imaging demonstrated no tumor recurrence or significant residual symptoms.

Conclusion: Our data, in concordance with prior studies, demonstrates a diverse genomic and epigenetic landscape of thoracic spinal meningiomas despite a seemingly homogenous clinical presentation. Understanding and identifying the molecular underpinnings can lead to a more precise and clinically significant classification of spinal meningiomas, which can further contribute to the development of targeted and improved therapeutic strategies.

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来源期刊
World neurosurgery
World neurosurgery CLINICAL NEUROLOGY-SURGERY
CiteScore
3.90
自引率
15.00%
发文量
1765
审稿时长
47 days
期刊介绍: World Neurosurgery has an open access mirror journal World Neurosurgery: X, sharing the same aims and scope, editorial team, submission system and rigorous peer review. The journal''s mission is to: -To provide a first-class international forum and a 2-way conduit for dialogue that is relevant to neurosurgeons and providers who care for neurosurgery patients. The categories of the exchanged information include clinical and basic science, as well as global information that provide social, political, educational, economic, cultural or societal insights and knowledge that are of significance and relevance to worldwide neurosurgery patient care. -To act as a primary intellectual catalyst for the stimulation of creativity, the creation of new knowledge, and the enhancement of quality neurosurgical care worldwide. -To provide a forum for communication that enriches the lives of all neurosurgeons and their colleagues; and, in so doing, enriches the lives of their patients. Topics to be addressed in World Neurosurgery include: EDUCATION, ECONOMICS, RESEARCH, POLITICS, HISTORY, CULTURE, CLINICAL SCIENCE, LABORATORY SCIENCE, TECHNOLOGY, OPERATIVE TECHNIQUES, CLINICAL IMAGES, VIDEOS
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