Is it a new culprit? “TERT promoter mutation” in an aggressive pediatric pilocytic astrocytoma

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 d...

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Bibliographic Details
Published in:Child's nervous system 2021-03, Vol.37 (3), p.1003-1008
Main Authors: Francis, Jacintha Vikeneswary, Tanrıkulu, Bahattin, Danyeli, Ayca Ersen, Özek, M. Memet
Format: Article
Language:English
Subjects:
Case Report
Medicine
Medicine & Public Health
Neurosciences
Neurosurgery
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Summary: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.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-020-04803-3