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

Philip George Eye, Laurence Davidson, Patrick J Malafronte, Sarah Cantrell, Brett J Theeler

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations

Abstract

BACKGROUND: 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.

METHODS: 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.

RESULTS: 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.

CONCLUSION: 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.

Original languageEnglish
Pages (from-to)280-284
Number of pages5
JournalJournal of the Neurological Sciences
Volume373
DOIs
StatePublished - 15 Feb 2017
Externally publishedYes

Keywords

  • Adult
  • Brain Neoplasms/diagnostic imaging
  • Class I Phosphatidylinositol 3-Kinases
  • Humans
  • Male
  • Mutation
  • Neoplasms, Neuroepithelial/diagnostic imaging
  • Phosphatidylinositol 3-Kinases/genetics

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