Pilocytic astrocytomas of the optic nerve and their relation to pilocytic astrocytomas elsewhere in the central nervous system

Gerald F. Reis, Michele M. Bloomer, Arie Perry, Joanna J. Phillips, James P. Grenert, Anthony Karnezis, Tarik Tihan

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Pilocytic astrocytoma is a low-grade glioma that affects mostly children and young adults and can occur anywhere in the central nervous system. Pilocytic astrocytoma of the optic nerve is an equally indolent subtype that is occasionally associated with neurofibromatosis type 1. In earlier studies, this subtype was considered within the larger category of 'optic pathway glioma,' which included infiltrating astrocytomas and other hypothalamic tumors. However, there have been suggestions that gliomas in the optic nerve, and especially pilocytic astrocytoma of the optic nerve, are biologically different from tumors within the hypothalamus and other parts of the optic tract. Furthermore, the recent discovery of BRAF duplication and fusion with the KIAA1549 gene is reported to be more typical for posterior fossa tumors, and the rate of this aberration is not well known in pilocytic astrocytoma of the optic nerve. To determine the distinction of pilocytic astrocytoma of the optic nerve from pilocytic astrocytoma of the posterior fossa and to investigate the prevalence of BRAF aberrations, we reviewed the clinicopathological and molecular features of all such patients in our institution. Our study demonstrates that BRAF duplication is more frequent in posterior fossa tumors compared with pilocytic astrocytoma of the optic nerve (P=0.011). However, the rates of phospho-MAPK1 and CDKN2A expression were high in both pilocytic astrocytoma of the optic nerve and posterior fossa pilocytic astrocytoma, suggesting that the MAPK pathway is active in these tumors. Our study supports the notion that BRAF duplication is more typical of posterior fossa pilocytic astrocytoma and that molecular alterations other than KIAA1549 fusion may underlie MAPK pathway activation in pilocytic astrocytoma of the optic nerve.

Original languageEnglish (US)
Pages (from-to)1279-1287
Number of pages9
JournalModern Pathology
Volume26
Issue number10
DOIs
StatePublished - Oct 1 2013
Externally publishedYes

Fingerprint

Astrocytoma
Optic Nerve
Central Nervous System
Hypothalamic Neoplasms
Optic Nerve Glioma
Infratentorial Neoplasms
Neurofibromatosis 1
Glioma
Young Adult

Keywords

  • Optic glioma
  • Pediatrics
  • Pilocytic astrocytoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Pilocytic astrocytomas of the optic nerve and their relation to pilocytic astrocytomas elsewhere in the central nervous system. / Reis, Gerald F.; Bloomer, Michele M.; Perry, Arie; Phillips, Joanna J.; Grenert, James P.; Karnezis, Anthony; Tihan, Tarik.

In: Modern Pathology, Vol. 26, No. 10, 01.10.2013, p. 1279-1287.

Research output: Contribution to journalArticle

Reis, Gerald F. ; Bloomer, Michele M. ; Perry, Arie ; Phillips, Joanna J. ; Grenert, James P. ; Karnezis, Anthony ; Tihan, Tarik. / Pilocytic astrocytomas of the optic nerve and their relation to pilocytic astrocytomas elsewhere in the central nervous system. In: Modern Pathology. 2013 ; Vol. 26, No. 10. pp. 1279-1287.
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