Johnson Anthony C, Tsitsikov Erdyni N, Phan Khanh P, Zuccato Jeffrey A, Bauer Andrew M, Graffeo Christopher S, Hameed Sanaa, Stephens Tressie M, Liu Yufeng, Dunn Gavin P, Tsytsykova Alla V, Jones Pamela S, Dunn Ian F
Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States.
Department of Physiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States.
Front Oncol. 2024 Dec 12;14:1506708. doi: 10.3389/fonc.2024.1506708. eCollection 2024.
Meningiomas are the most common primary central nervous system (CNS) tumor in adults, comprising one-third of all primary adult CNS tumors. Although several recent publications have identified molecular alterations in meningioma including characteristic mutations, copy number alterations, and gene expression signatures, our understanding of the drivers of meningioma recurrence is limited.
To identify gene expression signatures of 1p22qNF2 meningioma recurrence, with concurrent biallelic inactivation of and loss of chr1p that are heterogenous but enriched for recurrent meningiomas.
Transcriptomic alterations present in recurrent versus primary 1p22qNF2 meningiomas were identified using RNA sequencing (RNA-seq) data in a clinically annotated cohort.
Recurrent 1p22qNF2 meningiomas were enriched for a newly identified null genotype compared to primary meningiomas that showed variable expression and independent external validation was performed.
The null genotype is a novel biomarker of 1p22qNF2 meningioma recurrence that resolves heterogeneity in existing meningioma subtypes and may be used to guide future clinical management decisions on extent of treatment to improve patient outcomes.
脑膜瘤是成人中最常见的原发性中枢神经系统（CNS）肿瘤，占所有原发性成人CNS肿瘤的三分之一。尽管最近有几篇出版物已经确定了脑膜瘤中的分子改变，包括特征性突变、拷贝数改变和基因表达特征，但我们对脑膜瘤复发驱动因素的理解仍然有限。
确定1p22qNF2脑膜瘤复发的基因表达特征，同时存在双等位基因失活和1号染色体短臂缺失，这些脑膜瘤具有异质性，但复发性脑膜瘤富集。
在一个临床注释队列中，使用RNA测序（RNA-seq）数据确定复发性与原发性1p22qNF2脑膜瘤中存在的转录组改变。
与显示可变表达的原发性脑膜瘤相比，复发性1p22qNF2脑膜瘤富集了一种新确定的无效基因型，并进行了独立的外部验证。
无效基因型是1p22qNF2脑膜瘤复发的一种新型生物标志物，它解决了现有脑膜瘤亚型中的异质性，可用于指导未来关于治疗范围的临床管理决策，以改善患者预后。
