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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Next-generation sequencing-based genomic profiling of advanced soft tissue and bone sarcomas
Yasemin Gündoğdu1, Elif Şenocak Taşçı2, Leyla Özer3
1Department of Internal Medicine, Acıbadem MAA University, Istanbul, Türkiye.
Background:
Sarcomas are rare mesenchymal tumors classified into soft tissue (STS) and bone sarcomas. Despite advances in treatment, the 5-year survival rate for metastatic disease remains low. There is still limited evidence regarding the use of next-generation sequencing (NGS).
Aim:
To identify targetable genomic alterations that may play a crucial role in sarcoma treatment where therapeutic options are limited.
Study Design:
Methods: We conducted a retrospective; multicenter analysis of 81 patients diagnosed with STS and bone sarcomas who underwent NGS at Acıbadem Health Group Hospitals to investigate their mutation profiles and explore potential targeted therapies.
Results:
Genomic profiling using four different NGS kits identified a total of 223 genomic alterations across the cohort. Genomic alterations were detectable in 90.1% of patients, with the most common types being copy number amplifications (26.9%) and deletions (24.7%). In addition, actionable mutations were identified in 22.2% of patients, rendering them eligible for FDA-approved targeted therapies. The most common alterations were found in TP53 (38%), RB1 (22%), and CDKN2A (14%) genes. Among the 79 patients with available microsatellite status data, all were microsatellite stable.
Conclusion:
The high proportion of patients eligible for targeted therapies identified underscores the critical need to integrate NGS-derived genetic insights into clinical practice to improve survival rates and treatment outcomes through more tailored therapeutic approaches for each individual. NGS also led to a reclassification of diagnosis in four patients, demonstrating its utility not only in therapeutic decision-making but also as a powerful diagnostic tool.
Insights
Next-generation sequencing (NGS) identified actionable mutations in 22.2% of sarcoma patients, enabling targeted therapies. This highlights NGS
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Sarcomas, rare mesenchymal tumors of soft tissue (STS) and bone, have limited treatment options and low survival rates for metastatic disease.
- Evidence for the clinical utility of next-generation sequencing (NGS) in sarcoma management remains limited.
- Current therapeutic strategies for sarcomas often fall short, especially in advanced stages.
Purpose of the Study:
- To identify targetable genomic alterations in sarcomas to guide treatment decisions.
- To explore the potential of next-generation sequencing (NGS) in uncovering therapeutic targets for rare cancers.
- To assess the feasibility of integrating genomic profiling into clinical practice for sarcoma patients.
Main Methods:
- Retrospective, multicenter analysis of 81 patients with STS and bone sarcomas.
- Next-generation sequencing (NGS) was performed using four different kits to investigate mutation profiles.
- Analysis focused on identifying actionable mutations and potential targeted therapies.
Main Results:
- Genomic alterations were detected in 90.1% of patients, with copy number amplifications (26.9%) and deletions (24.7%) being most common.
- Actionable mutations, eligible for FDA-approved therapies, were found in 22.2% of patients.
- The most frequent gene alterations involved TP53 (38%), RB1 (22%), and CDKN2A (14%). All patients were microsatellite stable.
Conclusions:
- Integrating NGS-derived genetic insights into clinical practice is crucial for improving sarcoma survival rates and treatment outcomes.
- NGS facilitates personalized therapeutic approaches by identifying targetable genomic alterations.
- NGS proved valuable as both a diagnostic tool, leading to reclassification in four patients, and for therapeutic decision-making.
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