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Updated: Mar 11, 2026
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Targeted sequencing of SMO and AKT1 in anterior skull base meningiomas
Matthew R Strickland1, Corey M Gill1,2, Naema Nayyar1
1Cancer Center and.
Abstract:
OBJECTIVE Meningiomas located in the skull base are surgically challenging. Recent genomic research has identified oncogenic SMO and AKT1 mutations in a small subset of meningiomas. METHODS The authors performed targeted sequencing in a large cohort of patients with anterior skull base meningiomas (n = 62) to better define the frequency of SMO and AKT1 mutations in these tumors. RESULTS The authors found SMO mutations in 7 of 62 (11%) and AKT1 mutations in 12 of 62 (19%) of their cohort. Of the 7 meningiomas with SMO mutations, 6 (86%) occurred in the olfactory groove. Meningiomas with an SMO mutation presented with significantly larger tumor volume (70.6 ± 36.3 cm3) compared with AKT1-mutated (18.2 ± 26.8 cm3) and wild-type (22.7 ± 23.9 cm3) meningiomas, respectively. CONCLUSIONS Combined, these data demonstrate clinically actionable mutations in 30% of anterior skull base meningiomas and suggest an association between SMO mutation status and tumor volume. Genotyping of SMO and AKT1 is likely to be high yield in anterior skull base meningiomas with available surgical tissue.
Insights
Oncogenic SMO and AKT1 mutations are common in skull base meningiomas, with SMO mutations linked to larger tumor volumes. Genotyping these mutations is valuable for anterior skull base meningioma treatment.
Area of Science:
- Neuro-oncology
- Genomics
- Skull Base Surgery
Background:
- Skull base meningiomas present significant surgical challenges.
- Genomic research has identified specific mutations (SMO, AKT1) in a subset of meningiomas.
- Understanding mutation frequency is crucial for targeted therapies.
Purpose of the Study:
- To determine the frequency of SMO and AKT1 mutations in anterior skull base meningiomas.
- To investigate the clinical significance of these mutations, including tumor characteristics.
Main Methods:
- Targeted sequencing was performed on a cohort of 62 anterior skull base meningioma patients.
- Tumor volumes were compared between mutated and wild-type meningiomas.
Main Results:
- SMO mutations were found in 11% (7/62) and AKT1 mutations in 19% (12/62) of tumors.
- SMO mutations were predominantly located in the olfactory groove (86%).
- SMO-mutated meningiomas exhibited significantly larger tumor volumes compared to AKT1-mutated or wild-type tumors.
Conclusions:
- Clinically actionable mutations (SMO, AKT1) are present in 30% of anterior skull base meningiomas.
- SMO mutation status is associated with increased tumor volume.
- Genotyping SMO and AKT1 is recommended for anterior skull base meningiomas.
