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使用甲基化阵列检测脑膜瘤:一项大型单中心研究的见解与建议

Testing Meningiomas With Methylation Arrays: Insights and Recommendations From a Large Single-Centre Study.

作者信息

Ruiz Fernanda, Rispoli Rossella, Jaunmuktane Zane, Merve Ashirwad, D'Antona Linda, Dutt Monika, Sahm Felix, Brandner Sebastian

机构信息

Division of Neuropathology, the National Hospital for Neurology and Neurosurgery, University College NHS Foundation Trust, London, UK.

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.

出版信息

Neuropathol Appl Neurobiol. 2025;51(3):e70018. doi: 10.1111/nan.70018.

Abstract

AIMS

Meningiomas are common primary CNS tumours, and their morphological diagnosis is usually straightforward. Their histological grading according to CNS WHO criteria alone provides limited information on recurrence risk. Risk stratification of meningiomas combining WHO grade, methylation class and copy number profile improves prediction of the risk of early recurrence. Because of the frequency of meningiomas in diagnostic practice, applying this prediction algorithm to all meningiomas is financially not viable in most healthcare systems.

METHODS

We analysed a retrospective dataset of over 1000 meningiomas from a single centre with methylation arrays to provide guidance on which meningiomas to prioritise for integrated molecular testing and to understand how WHO grades resolve into risk strata.

RESULTS

Approximately 90% of CNS WHO Grade 1 meningiomas were allocated into the methylation class 'benign' and also into a low-risk group. Grade 2 meningiomas were allocated almost equally to either the low-risk (39%) or intermediate-risk groups (46%) but occasionally also to the high-risk group (15%). All grading criteria for CNS WHO Grade 2 meningiomas (brain invasion, mitotic count, cytoarchitectural atypia and histological type) showed a similar risk score distribution as the entire group. Grade 3 meningiomas were allocated to intermediate- (26%) or high-risk groups (74%).

CONCLUSION

Our data suggest that Grade 2 and 3 meningiomas should be prioritised for methylation profiling. A small proportion of Grade 1 meningiomas may also benefit from integrated molecular analysis, and further research is needed to explore if those histologically benign meningiomas with a predicted increased recurrence risk are associated with distinct demographic or histological characteristics.

摘要

目的

脑膜瘤是常见的原发性中枢神经系统肿瘤,其形态学诊断通常较为直接。仅根据世界卫生组织(CNS WHO)标准对其进行组织学分级,提供的复发风险信息有限。结合WHO分级、甲基化类别和拷贝数谱对脑膜瘤进行风险分层,可改善对早期复发风险的预测。由于脑膜瘤在诊断实践中较为常见,在大多数医疗系统中,将这种预测算法应用于所有脑膜瘤在经济上并不可行。

方法

我们分析了来自单一中心的1000多例脑膜瘤的回顾性数据集,并进行甲基化阵列分析,以指导哪些脑膜瘤应优先进行综合分子检测,并了解WHO分级如何转化为风险分层。

结果

约90%的CNS WHO 1级脑膜瘤被归类为甲基化类别“良性”,也属于低风险组。2级脑膜瘤几乎平均分配到低风险组(39%)或中风险组(46%),但偶尔也会分到高风险组(15%)。CNS WHO 2级脑膜瘤的所有分级标准(脑侵犯、有丝分裂计数、细胞结构异型性和组织学类型)显示出与整个组相似的风险评分分布。3级脑膜瘤被分配到中风险组(26%)或高风险组(74%)。

结论

我们的数据表明,2级和3级脑膜瘤应优先进行甲基化分析。一小部分1级脑膜瘤也可能从综合分子分析中获益,需要进一步研究来探讨那些预测复发风险增加的组织学良性脑膜瘤是否与不同的人口统计学或组织学特征相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d734/12070139/a9a07f6cdf8c/NAN-51-e70018-g007.jpg

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