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Multigene profiling to identify alternative treatment options for glioblastoma: a pilot study
Tania Tabone1, Hazem J Abuhusain2, Anna K Nowak3
1Translational Cancer Pathology Laboratory, School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Western Australia, Australia.
Unlabelled:
Glioblastoma (GBM) is a highly aggressive malignancy and the most effective treatment regime has a high relapse rate. Increasingly, the development of therapies involves defining drug-diagnostic combinations where the presence of a molecular target or marker identifies patients who are most likely to respond to a specific therapy. Trials in other solid cancers have demonstrated clear utility in the incorporation of biomarkers to stratify patients to targeted treatment, however, there are no mutations that are currently used to inform treatment options for GBM.
Aims:
We piloted the use of high-throughput next-generation sequencing technology to identify genetic mutations in 44 GBM specimens that may be amenable to current or future targeted therapeutic strategies.
Method:
Somatic mutation profiling was performed using the AmpliSeq Cancer Hotspot Panel v2 and semiconductor sequencing technology.
Results:
A total of 66 mutations were detected in 35/44 (80%) patients. The number of mutations per tumour ranged from 0 to 4 (average per tumour=1.5). The most frequent mutations were in TP53 (n=12), PTEN (n=9), EGFR (n=8) and PIK3CA (n=5). Clinically actionable somatic mutations were detected in 24/35 (69%) patients.
Conclusions:
This study demonstrates that the use of an 'off-the-shelf' oncogene primer panel and benchtop next-generation sequencer can identify mutations and potentially actionable targets in the majority of GBM patients. Data from this pilot highlights the potential for targeted genetic resequencing to identify mutations that may inform treatment options and predict outcomes.
Insights
Next-generation sequencing identified actionable mutations in 80% of glioblastoma (GBM) patients, highlighting potential for targeted therapies. This genetic profiling can guide personalized treatment strategies for aggressive brain tumors.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Glioblastoma (GBM) is an aggressive brain cancer with high relapse rates despite treatment.
- Targeted therapies require identifying molecular markers for patient stratification, a strategy lacking in current GBM treatment.
- Drug-diagnostic combinations are crucial for developing effective, personalized cancer therapies.
Purpose of the Study:
- To pilot high-throughput next-generation sequencing (NGS) for identifying actionable genetic mutations in GBM specimens.
- To assess the feasibility of using NGS to discover potential therapeutic targets in glioblastoma.
- To explore the utility of genetic profiling for informing treatment decisions in GBM.
Main Methods:
- Somatic mutation profiling of 44 GBM specimens.
- Utilized the AmpliSeq Cancer Hotspot Panel v2 and semiconductor sequencing technology.
- High-throughput next-generation sequencing was employed for comprehensive genetic analysis.
Main Results:
- Detected 66 mutations across 35 out of 44 (80%) GBM patients.
- The most frequent mutations identified were in TP53, PTEN, EGFR, and PIK3CA.
- Clinically actionable somatic mutations were found in 69% of patients with detectable mutations.
Conclusions:
- NGS with an 'off-the-shelf' panel can identify actionable targets in most GBM patients.
- Targeted genetic resequencing shows potential for guiding GBM treatment and predicting patient outcomes.
- This pilot study supports the integration of genetic profiling into GBM clinical practice.
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