Molecular profiling of CNS tumors for the treatment and management of disease.

Publication date: Dec 16, 2019

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.

Nie, Q., Hsiao, M.C., 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., and Reddi, H.V. Molecular profiling of CNS tumors for the treatment and management of disease. 06000. 2019 J Clin Neurosci.

Concepts Keywords
AMP Brain tumor
Brain Tumor Glioblastoma
CDK4 Oncology
CDKN2A Cancer
Central Nervous System RTT
Cohort Neoplasms
Copy Number Branches of biology
Correlation Investigational therapies
EGFR Tumors
FDA Signatures glioblastoma
Glioblastoma Glioblastomas
Glioblastomas CDKN2A
Next Generation Sequencing IDH1
Tier II


Type Source Name
disease MESH tumors
disease MESH glioblastoma
disease MESH primary brain tumor


Original Article

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