Purpose

As sphenoid wing meningiomas (SWMs) are associated with varying degrees of bony involvement, we sought to understand potential relationships between genomic subgroup and this feature.

Methods

Patients treated at Yale-New Haven Hospital for SWM were reviewed. Genomic subgroup was determined via whole exome sequencing, while the extent of bony involvement was radiographically classified as no bone invasion (Type I), hyperostosis only (Type II), tumor invasion only (Type III), or both hyperostosis and tumor invasion (Type IV). Among additional clinical variables collected, a subset of tumors was identified as spheno-orbital meningiomas (SOMs). Machine-learning approaches were used to predict genomic subgroups based on pre-operative clinical features.

Results

Among 64 SWMs, 53% had Type-II, 9% had Type-III, and 14% had Type-IV bone involvement; nine SOMs were identified. Tumors with invasion (i.e., Type III or IV) were more likely to be WHO grade II (p: 0.028). Additionally, tumors with invasion were nearly 30 times more likely to harbor NF2 mutations (OR 27.6; p: 0.004), while hyperostosis only were over 4 times more likely to have a TRAF7 mutation (OR 4.5; p: 0.023). SOMs were a significant predictor of underlying TRAF7 mutation (OR 10.21; p: 0.004).

Conclusions

SWMs with invasion into bone tend to be higher grade and are more likely to be NF2 mutated, while SOMs and those with hyperostosis are associated with TRAF7 variants. Pre-operative prediction of molecular subtypes based on radiographic bony characteristics may have significant biological and clinical implications based on known recurrence patterns associated with genomic drivers and grade.

中文翻译：

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骨受累类型可预测蝶翼脑膜瘤的基因组亚群

目的

由于蝶骨翼脑膜瘤 (SWM) 与不同程度的骨受累相关，我们试图了解基因组亚群与该特征之间的潜在关系。

方法

对在耶鲁-纽黑文医院接受 SWM 治疗的患者进行了审查。基因组亚组通过全外显子组测序确定，而骨受累程度在影像学上分为无骨侵袭（I型）、仅骨质增生（II型）、仅肿瘤侵袭（III型）或骨质增生和肿瘤侵袭（类型四）。在收集的其他临床变量中，一部分肿瘤被确定为蝶眶脑膜瘤 (SOM)。机器学习方法用于根据术前临床特征预测基因组亚组。

结果

在 64 个 SWM 中，53% 有 II 型，9% 有 III 型，14% 有 IV 型骨受累；确定了九个 SOM。侵袭性肿瘤（即 III 型或 IV 型）更可能为 WHO II 级（p：0.028）。此外，侵袭性肿瘤发生NF2突变的可能性高出近 30 倍（OR 27.6；p：0.004），而骨质增生发生TRAF7突变的可能性仅高出 4 倍多（OR 4.5；p：0.023）。SOM 是潜在TRAF7突变的重要预测因子（OR 10.21；p：0.004）。

结论

侵入骨的 SWM 往往等级更高，更可能发生NF2突变，而 SOM 和骨质增生与TRAF7变体相关。基于与基因组驱动因素和等级相关的已知复发模式，基于放射学骨特征的分子亚型的术前预测可能具有重要的生物学和临床意义。