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PIK3CA mutation in a mixed dysembryoplastic neuroepithelial tumor and rosette forming glioneuronal tumor, a case report and literature review.

Publication ,  Journal Article
Eye, PG; Davidson, L; Malafronte, PJ; Cantrell, S; Theeler, BJ
Published in: Journal of the neurological sciences
February 2017

Rosette forming glioneuronal tumors are rare, World Health Organization (WHO) grade I novel tumors frequently affecting the fourth ventricle or posterior fossa with typical neuronal pseudorosettes. RGNTs have been described as possessing additional histologic features of DNETs or pilocytic astrocytomas. Activating PIK3CA mutations have been identified as recurring genetic event in RGNTs.We report a 35year old man who presented with binocular diplopia, headache, and was found to have a third ventricle tumor. Tumor pathology and oncogene evaluation were conducted.The tumor demonstrated histologic features consistent with mixed RGNT/DNET. Genetic studies revealed a PIK3CA mutation in exon 9 (E545K, C. 1633G>A) without IDH1, p53, 1p19q chromosomal co-deletion, or BRAF mutations. A literature search revealed six cases of PIK3CA mutations in RGNTs and seven cases of mixed RGNT/DNET. No cases of mixed RGNT/DNET with a PIK3CA mutation have been described.This is the first documented case of an RGNT/DNET with an activating PIK3CA mutation. The presence of a PIK3CA mutation aids histologic classification in the setting of mixed histology, and may have implications for targeting the PI3K/AKT/mTOR pathway in this tumor type.

Duke Scholars

Published In

Journal of the neurological sciences

DOI

EISSN

1878-5883

ISSN

0022-510X

Publication Date

February 2017

Volume

373

Start / End Page

280 / 284

Related Subject Headings

  • Phosphatidylinositol 3-Kinases
  • Neoplasms, Neuroepithelial
  • Mutation
  • Male
  • Humans
  • Class I Phosphatidylinositol 3-Kinases
  • Brain Neoplasms
  • Adult
  • 5202 Biological psychology
  • 3209 Neurosciences
 

Citation

APA
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MLA
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Eye, P. G., Davidson, L., Malafronte, P. J., Cantrell, S., & Theeler, B. J. (2017). PIK3CA mutation in a mixed dysembryoplastic neuroepithelial tumor and rosette forming glioneuronal tumor, a case report and literature review. Journal of the Neurological Sciences, 373, 280–284. https://doi.org/10.1016/j.jns.2016.11.003
Eye, Philip George, Laurence Davidson, Patrick J. Malafronte, Sarah Cantrell, and Brett J. Theeler. “PIK3CA mutation in a mixed dysembryoplastic neuroepithelial tumor and rosette forming glioneuronal tumor, a case report and literature review.Journal of the Neurological Sciences 373 (February 2017): 280–84. https://doi.org/10.1016/j.jns.2016.11.003.
Eye PG, Davidson L, Malafronte PJ, Cantrell S, Theeler BJ. PIK3CA mutation in a mixed dysembryoplastic neuroepithelial tumor and rosette forming glioneuronal tumor, a case report and literature review. Journal of the neurological sciences. 2017 Feb;373:280–4.
Eye, Philip George, et al. “PIK3CA mutation in a mixed dysembryoplastic neuroepithelial tumor and rosette forming glioneuronal tumor, a case report and literature review.Journal of the Neurological Sciences, vol. 373, Feb. 2017, pp. 280–84. Epmc, doi:10.1016/j.jns.2016.11.003.
Eye PG, Davidson L, Malafronte PJ, Cantrell S, Theeler BJ. PIK3CA mutation in a mixed dysembryoplastic neuroepithelial tumor and rosette forming glioneuronal tumor, a case report and literature review. Journal of the neurological sciences. 2017 Feb;373:280–284.
Journal cover image

Published In

Journal of the neurological sciences

DOI

EISSN

1878-5883

ISSN

0022-510X

Publication Date

February 2017

Volume

373

Start / End Page

280 / 284

Related Subject Headings

  • Phosphatidylinositol 3-Kinases
  • Neoplasms, Neuroepithelial
  • Mutation
  • Male
  • Humans
  • Class I Phosphatidylinositol 3-Kinases
  • Brain Neoplasms
  • Adult
  • 5202 Biological psychology
  • 3209 Neurosciences