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Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma

Malak Abedalthagafi1, Wenya Linda Bi1, Ayal A Aizer1

  • 1Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts (M.A., P.H.M., R.B., M.L.L., S.H.R., R.D.F., K.L.L., A.H.L., S.S.); Department of Pathology, King Fahad Medical City, Riyadh, Saudi Arabia (M.A.); King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia (M.A.); Harvard Medical School, Boston, Massachusetts (M.A., A.A.A., D.D.-S., P.K.B., D.A.R., P.Y.W., O.A.-M., S.H.R., R.D.F., K.L.L., A.H.L., B.M.A., I.F.D., R.B., S.S.); Department of Neurosurgery, Brigham and Women's Hospital, Boston, Massachusetts (W.L.B., O.A.-M., I.F.D.); Department of Radiation Oncology, Brigham and Women's Hospital, Boston, Massachusetts (A.A.A., B.M.A.); Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts (P.K.A.); Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts (D.D.-S.); Center for Cancer Genomic Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts (A.R.T., P.V.H.); Department of Neuro-Oncology, Massachusetts General Hospital, Boston, Massachusetts (P.K.B.); Center of Neuro-Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts (D.A.R., P.Y.W, R.B.); Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts (K.L.L., R.B.); Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA (S.S.).

Neuro-Oncology
|January 31, 2016
PubMed
Abstract

Insights

This study found PIK3CA mutations in 7% of meningiomas, suggesting PI3K signaling as a target for precision medicine in brain tumor patients.

Area of Science:

  • Neuro-oncology
  • Genomics
  • Cancer Biology

Background:

  • Meningiomas are the most common primary adult brain tumors.
  • SMO and AKT1 mutations suggest potential targeted therapies.
  • Defining mutation frequencies and actionable targets is crucial.

Purpose of the Study:

  • To characterize copy-number changes and mutations in a cohort of meningiomas.
  • To identify actionable mutations for targeted therapy development.
  • To investigate the role of PI3K signaling in meningioma pathogenesis.

Main Methods:

  • High-resolution array-comparative genomic hybridization (aCGH) was used.
  • 150 meningioma samples were analyzed for copy-number variations.
  • Mutations in AKT1, KLF4, NF2, PIK3CA, SMO, and TRAF7 were characterized.

Main Results:

  • AKT1 (∼9%) and SMO (∼6%) mutations were found in non-NF2-mutant meningiomas.
  • Oncogenic PIK3CA mutations were detected in ∼7% of non-NF2-mutant meningiomas.
  • AKT1, SMO, and PIK3CA mutations were mutually exclusive; PIK3CA-mutant tumors showed low chromosomal instability and were enriched in the skull base.

Conclusions:

  • PIK3CA mutations represent a significant finding in meningioma genomics.
  • PI3K signaling is identified as a key target for precision medicine in meningioma treatment.
  • This research supports the development of targeted therapies for specific meningioma subsets.
Keywords:
AKT1NF2PIK3CASMOaCGHmeningiomamolecular pathology

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