目的:该研究旨在研究嗅沟脑膜瘤(OGM)患者的基因组改变与术前嗅觉功能之间的可能相关性,由于嗅觉损害的频繁存在。
方法:我们利用下一代测序来分析来自22名OGM患者的样本,以检测驱动突变。使用术前成像评估肿瘤形态,而嗅觉功能是使用Sniffin\'棒检查的。
结果:在22名OGM患者的研究中,突变如下:10与SMO/SUFU,7与AKT1,5为野生型。75%的患者存在蝶骨扁平骨肥厚症(PSH),显示突变的显著变异(p=0.048)。肿瘤体积,平均25cm3,组间差异显著。PSH负面影响嗅觉,特别是影响气味阈值,歧视,identification,和全球嗅觉表现评分(TDI)(p值范围为<0.001至0.003)。周围水肿与较低的TDI(p=0.009)和阈值评分改变(p=0.038)相关。65岁以上的年龄和女性性别与较低的阈值和歧视得分有关(p=0.037和p=0.019)。
结论:这项研究强调了PSH和周围水肿对OGM患者嗅觉功能的显著影响,但发现嗅觉障碍和肿瘤突变之间没有联系,可能是由于样本量小。这表明年龄和性别影响嗅觉障碍。需要对更多参与者进行更多研究,以探索OGM驱动突变对嗅觉表现的影响。
OBJECTIVE: The study aims to examine the possible correlation between genomic alterations and preoperative olfactory function in patients with olfactory groove meningioma (OGM), due to the frequent presence of olfactory impairment.
METHODS: We utilised next-generation sequencing to analyse samples from 22 individuals with OGM in order to detect driver mutations. Tumour morphology was assessed using preoperative imaging, whereas olfactory function was examined using Sniffin\' Sticks.
RESULTS: In a study of 22 OGM patients, mutations were as follows: 10 with SMO/SUFU, 7 with AKT1, and 5 as wild type. Planum sphenoidale hyperostosis (PSH) was present in 75% of patients, showing significant variation by mutation (p = 0.048). Tumour volumes, averaging 25 cm3, significantly differed among groups. PSH negatively impacted olfaction, notably affecting odour threshold, discrimination, identification, and global olfactory performance score (TDI) (p values ranging from <0.001 to 0.003). Perifocal oedema was associated with lower TDI (p = 0.009) and altered threshold scores (p = 0.038). Age over 65 and female gender were linked to lower thresholds and discrimination scores (p = 0.037 and p = 0.019).
CONCLUSIONS: The study highlights PSH and perifocal oedema\'s significant effect on olfactory function in OGM patients but finds no link between olfactory impairment and tumour mutations, possibly due to the small sample size. This suggests that age and gender affect olfactory impairment. Additional research with a larger group of participants is needed to explore the impact of OGM driver mutations on olfactory performance.