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70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)
Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

12.05. - 15.05.2019, Würzburg

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Genomic analysis of posterior fossa meningioma demonstrates frequent AKT1 E17K mutations in foramen magnum meningiomas

Ergebnisse einer genomischen Analyse der Meningeome der hinteren Schädelgrube – Forman magnum Meningeome zeigen eine hohe Rate an AKT1 Mutationen

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  • presenting/speaker Tareq Juratli - Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Klinik für Neurochirurgie, Dresden, Deutschland; Massachusetts General Hospital, Division of Neuro-Oncology and Hematology/Oncology, Departments of Medicine and Neurology, Boston, MA, United States; Massachusetts General Hospital, Department of Neurosurgery, Boston, MA, United States
  • Sally Willimas - Massachusetts General Hospital, Division of Neuro-Oncology and Hematology/Oncology, Departments of Medicine and Neurology, Boston, MA, United States
  • Matthew Strickland - Massachusetts General Hospital, Division of Neuro-Oncology and Hematology/Oncology, Departments of Medicine and Neurology, Boston, MA, United States
  • Matthew Frosch - Massachusetts General Hospital, Division of Neuro-Oncology and Hematology/Oncology, Departments of Medicine and Neurology, Boston, MA, United States; Massachusetts General Hospital, Department of Pathology, Boston, MA, United States
  • Gabriele Schackert - Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Klinik für Neurochirurgie, Dresden, Deutschland
  • Daniel Cahill - Massachusetts General Hospital, Department of Neurosurgery, Boston, MA, United States
  • Frederick Barker II - Massachusetts General Hospital, Department of Neurosurgery, Boston, MA, United States
  • Priscilla Brastianos - Massachusetts General Hospital, Division of Neuro-Oncology and Hematology/Oncology, Departments of Medicine and Neurology, Boston, MA, United States

Deutsche Gesellschaft für Neurochirurgie. 70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie. Würzburg, 12.-15.05.2019. Düsseldorf: German Medical Science GMS Publishing House; 2019. DocP085

doi: 10.3205/19dgnc423, urn:nbn:de:0183-19dgnc4236

Published: May 8, 2019

© 2019 Juratli et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

Outline

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Objective: Posterior fossa meningiomas are surgically challenging tumors that are associated with high morbidity and mortality. We sought to investigate the anatomic 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 >500X. 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 cerebellar pontine angle. In contrast, none of the posterior fossa tumors harbored a SMO (L412F) nor 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.