Molecular profiling of CNS tumors for the treatment and management of disease.
Document Type
Article
Publication Date
2020
Keywords
JGM, JAXCC
JAX Source
J Clin Neurosci 2020 Jan; 71:311-315
Volume
71
First Page
311
Last Page
315
ISSN
1532-2653
PMID
31859178
DOI
https://doi.org/10.1016/j.jocn.2019.11.035
Abstract
The World Health Organization (WHO) has defined more than 130 distinct central nervous system (CNS) tumor entities, of which glioblastoma is the most fatal primary brain tumor. However, the correlation of the molecular signatures of glioblastoma with clinical significance for precision medicine is not well-known. How, and to what extent these variants may affect clinical decision making remains uncertain. Here, we evaluate 48 glioblastomas submitted for testing using the JAX ActionSeq™ Next-generation sequencing (NGS) panel. We identified 131 clinically significant variants (Tier I and II) across 30 of the 212 genes (14%). TP53, EGFR, PTEN, IDH1 were the most commonly mutated genes; EGFR, CDK4 amplifications, and CDKN2A deletion were the most frequently detected copy-number alterations. CDK4/6 and PI3K inhibitors were among the most commonly reported drug class with FDA approved therapies and investigational therapies, which is consistent with the frequencies of these genes in our cohort. Overall, our study established the molecular profiles of glioblastoma based on the 2017 joint consensus guidelines by AMP/ASCO/CAP and provides the potential implications for targeted therapeutic options currently available.
Recommended Citation
Nie Q,
Hsiao M,
Chandok H,
Rowe S,
Prego M,
Meyers B,
Omerza G,
Hesse A,
Uvalic J,
Soucy M,
Bergeron D,
Peracchio M,
Burns S,
Kelly K,
Rueter J,
Reddi H.
Molecular profiling of CNS tumors for the treatment and management of disease. J Clin Neurosci 2020 Jan; 71:311-315