Artikel
Correlation of AKT1-, SMO- and PIK3CA-mutated olfactory groove meningiomas with olfactory function and radiographic features
Korrelation der AKT1-, SMO- und PIK3CA-mutierten Olfaktoriusrinnenmeningeome mit der olfaktorischen Funktion und den radiologischen Merkmalen
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Veröffentlicht: | 25. Mai 2022 |
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Gliederung
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Objective: Genomic studies have identified oncogenic SMO and AKT1 mutations in olfactory groove meningiomas (OGM). Here, we sought to correlate radiologic features and olfactory function with the molecular status in a large cohort of OGM patients.
Methods: We performed targeted sequencing in 58 OGM patients (39 females and 19 males) to determine the frequency of SMO (L412F and W535L), AKT1(E17K) and PIK3CA(H1047R) mutations. The molecular results were subsequently correlated with tumor features on MR imaging. In addition, detailed olfactory function (odor Threshold, Discrimination and Identification tests, TDI) was preoperatively assessed in 32 (55.2%) and postoperatively in 23 (39.7%) patients. The TDI score was defined as functional anosmia (≤ 16.5), normosmia (> 30.5) and hyposmia (score between both values).
Results: SMO mutations were found in 16 (27.6%), AKT1 in 10 (17.2%) and PIK3CA mutations in 5 (8.6%) patients, while the remaining 27 tumors were wild-type (WT). Meningiomas with an SMO mutation presented with a tumor volume of (329.4 ± 323.0 cm3) compared with AKT1-mutated (283.3 ± 156.2 cm3) and WT (330.2 ± 302.9 cm3) meningiomas, respectively. Males had a significantly better preoperative odor Threshold and Identification than females (p=0.04 and p=0.03; respectively). Regarding preoperative olfactory function, there was no significant difference between patients with AKT1-, SMO, PIK3CA- mutant tumors and their counterparts with WT meningiomas. Preoperative olfactory function correlated to OGM volume (Discrimination: r20=0.5, p=0.025, Identification r26=0.53, p=0.005; TDI score: r23=0.57, p=0.004). Postoperative Discrimination, Identification and TDI-scores were reduced and correlated significantly with tumor volume (p<0.001). Radiographically, tumor infiltration of the ethmoidal cells was found in 10 cases (17.2%), with the highest rate in PIK3CA-mutated OGM (60%), compared with 12.5% in AKT1-, 28.5% in SMO-mutated, and 10% in WT meningiomas. In addition, tumor-associated hyperostosis of the skull base was common in OGM (65.5%), with the lowest frequency in the AKT1-mutated group (50%) and the highest in the SMO and WT-groups (85% each).
Conclusion: Our data demonstrate clinically actionable mutations in 53.4% of OGM and suggest no association between the molecular status and common clinical and tumor radiologic features. Similarly, we did not detect a correlation between the olfactory function and the tumor molecular profile.