Genomic Analysis of Posterior Fossa Meningioma Demonstrates Frequent AKT1 E17K Mutations in Foramen Magnum Meningiomas

التفاصيل البيبلوغرافية
العنوان: Genomic Analysis of Posterior Fossa Meningioma Demonstrates Frequent AKT1 E17K Mutations in Foramen Magnum Meningiomas
المؤلفون: Sally R. Williams, Priscilla K. Brastianos, Matthew R. Strickland, Ian M. Silverman, Matthew P. Frosch, Corey M. Gill, Kaitlin Hoang, Alexander Kaplan, Naema Nayyar, Heather Ely, Jason Christiansen, Ivanna Bihun, Fred G. Barker, Megan R. D'Andrea, Melanie Babinski, Tyler T. Lazaro, Sarah E. Johnstone, Daniel P. Cahill, Brandyn A. Castro, Tareq A. Juratli, Emily Batchelor
المصدر: Journal of Neurological Surgery Part B: Skull Base. 80:562-567
بيانات النشر: Georg Thieme Verlag KG, 2019.
سنة النشر: 2019
مصطلحات موضوعية: medicine.medical_specialty, Foramen magnum, Mutation, Fossa, biology, business.industry, medicine.medical_treatment, AKT1, Cerebellopontine angle, medicine.disease, biology.organism_classification, medicine.disease_cause, Targeted therapy, Meningioma, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, otorhinolaryngologic diseases, medicine, Neurology (clinical), Radiology, business, neoplasms, Genotyping, 030217 neurology & neurosurgery
الوصف: Objective Posterior fossa meningiomas are surgically challenging tumors that are associated with high morbidity and mortality. We sought to investigate the anatomical distribution of clinically actionable mutations in posterior fossa meningioma to facilitate identifying patients amenable for systemic targeted therapy trials. Methods Targeted sequencing of clinically targetable AKT1, SMO, and PIK3CA mutations was performed in 61 posterior fossa meningioma using Illumina NextSeq 500 to a target depth of >500 × . Samples were further interrogated for 53 cancer-relevant RNA fusions by the Archer FusionPlex panel to detect gene rearrangements. Results AKT1 (E17K) mutations were detected in five cases (8.2%), four in the foramen magnum and one in the cerebellopontine angle. In contrast, none of the posterior fossa tumors harbored an SMO (L412F) or a PIK3CA (E545K) mutation. Notably, the majority of foramen magnum meningiomas (4/7, 57%) harbored an AKT1 mutation. In addition, common clinically targetable gene fusions were not detected in any of the cases. Conclusion A large subset of foramen magnum meningiomas harbor AKT1 E17K mutations and are therefore potentially amenable to targeted medical therapy. Genotyping of foramen magnum meningiomas may enable more therapeutic alternatives and guide their treatment decision process.
تدمد: 2193-634X
2193-6331
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7b36cdfb4fb5ae8a6b24dd59168f3d70Test
https://doi.org/10.1055/s-0038-1676821Test
حقوق: OPEN
رقم الانضمام: edsair.doi...........7b36cdfb4fb5ae8a6b24dd59168f3d70
قاعدة البيانات: OpenAIRE