Is it a new culprit? "TERT promoter mutation" in an aggressive pediatric pilocytic astrocytoma.


Francis J. V. , TANRIKULU B. , Danyeli A. , Ozek M. M.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, vol.37, pp.1003-1008, 2021 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37
  • Publication Date: 2021
  • Doi Number: 10.1007/s00381-020-04803-3
  • Title of Journal : Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • Page Numbers: pp.1003-1008

Abstract

Recent advances in the genomic study have revolutionized the discovery of molecular biomarkers in glioma not only to aid in targeted therapy but also to prognosticate character of tumor and outcome of a patient. The usually benign nature of pilocytic astrocytoma (PA) can now be challenged with the discovery of genomic alterations that could promote more aggressive clinical behavior. CDKN2A deletion and ATRX gene inactivation or mutation have been the most common molecular alterations in worse prognosis. We will discuss a case of pilocytic astrocytoma showing the progressive recurrence with pilomyxoid features and the presence of TERT promoter mutation.