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测序答案:利用基于批量RNA测序的参考图谱探索脑膜瘤生物学

Seq-ing answers: exploring meningioma biology utilizing bulk RNA-seq-based reference landscapes.

作者信息

Parrish Abigail G, Holland Eric C

机构信息

Human Biology Division, Fred Hutchinson Cancer Center, Seattle, WA, United States.

出版信息

Front Oncol. 2025 Aug 27;15:1631573. doi: 10.3389/fonc.2025.1631573. eCollection 2025.

DOI:10.3389/fonc.2025.1631573
PMID:40936721
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12420215/
Abstract

Meningiomas are the most common primary brain tumors, accounting for 40% of all central nervous system neoplasms. While usually benign, these tumors can vary in aggressiveness. Traditional classification and grading systems, which primarily rely on histopathological features, are not always reliable in capturing tumor behavior and predicting patient outcomes. In contrast, modern systems-based on factors such as copy number alterations, DNA methylation, and gene expression-offer a more accurate framework for identifying distinct biological signatures and aggressive subtypes, as well as for predicting recurrence. Transcriptomic profiling using bulk whole-genome RNA sequencing (RNA-seq), which provides insights into alternative splicing, gene expression, fusion events, non-coding RNAs, and pathway activity, further enhances our understanding of meningioma tumorigenesis, enables the projection of new samples onto dimension-reduced reference landscapes, and helps accurately predict recurrence. As bulk RNA-seq becomes more accessible, it holds great potential for refining prognostic tools, informing personalized treatment approaches, and ultimately improving outcomes for meningioma patients.

摘要

脑膜瘤是最常见的原发性脑肿瘤,占所有中枢神经系统肿瘤的40%。虽然这些肿瘤通常是良性的,但它们的侵袭性可能有所不同。传统的分类和分级系统主要依赖组织病理学特征,在捕捉肿瘤行为和预测患者预后方面并不总是可靠的。相比之下,基于拷贝数改变、DNA甲基化和基因表达等因素的现代系统,为识别不同的生物学特征和侵袭性亚型以及预测复发提供了更准确的框架。使用大量全基因组RNA测序(RNA-seq)进行转录组分析,可深入了解可变剪接、基因表达、融合事件、非编码RNA和信号通路活性,进一步加深我们对脑膜瘤肿瘤发生的理解,使新样本能够投影到降维后的参考图谱上,并有助于准确预测复发。随着大量RNA-seq越来越容易获得,它在完善预后工具、指导个性化治疗方法以及最终改善脑膜瘤患者的治疗结果方面具有巨大潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9150/12420215/7721b7624340/fonc-15-1631573-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9150/12420215/8b88ac6aedc0/fonc-15-1631573-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9150/12420215/7721b7624340/fonc-15-1631573-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9150/12420215/8b88ac6aedc0/fonc-15-1631573-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9150/12420215/7721b7624340/fonc-15-1631573-g002.jpg

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本文引用的文献

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Molecular signatures define BAP1-altered meningioma as a distinct CNS tumor with deregulation of Polycomb repressive complex target genes.分子特征将BAP1改变的脑膜瘤定义为一种独特的中枢神经系统肿瘤,其多梳抑制复合体靶基因发生失调。
Neuro Oncol. 2025 Apr 18. doi: 10.1093/neuonc/noaf105.
2
Aggressive high-grade NF2 mutant meningiomas downregulate oncogenic YAP signaling via the upregulation of VGLL4 and FAT3/4.侵袭性高级别NF2突变型脑膜瘤通过上调VGLL4和FAT3/4来下调致癌性YAP信号传导。
Neurooncol Adv. 2024 Aug 24;6(1):vdae148. doi: 10.1093/noajnl/vdae148. eCollection 2024 Jan-Dec.
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cIMPACT-NOW update 8: Clarifications on molecular risk parameters and recommendations for WHO grading of meningiomas.
cIMPACT-NOW更新8:脑膜瘤分子风险参数的澄清及世界卫生组织分级建议
Neuro Oncol. 2025 Feb 10;27(2):319-330. doi: 10.1093/neuonc/noae170.
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AJNR Am J Neuroradiol. 2025 Feb 3;46(2):240-250. doi: 10.3174/ajnr.A8368.
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Cell Genom. 2024 Jun 12;4(6):100566. doi: 10.1016/j.xgen.2024.100566. Epub 2024 May 23.
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