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Updated: Oct 4, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Clinical Utility of Genomic Profiling in the Treatment of Advanced Sarcomas: A Single-Center Experience
Spandana Boddu1, Christine M Walko1, Stephanie Bienasz1
1Spandana Boddu and Stephanie Bienasz, University of South Florida; Christine M. Walko, Marilyn M. Bui, Evita Henderson-Jackson, Arash O. Naghavi, John E. Mullinax, David M. Joyce, Odion Binitie, G. Douglas Letson, Ricardo J. Gonzalez, Damon R. Reed, Mihaela Druta, and Andrew S. Brohl, Moffitt Cancer Center and Research Institute, Tampa, FL.
Purpose:
Sarcomas are a diverse group of malignant tumors that arise from soft tissues or bone. For most advanced cases, there is a substantial need for improved therapeutic options and, therefore, a desire to more precisely tailor therapy in individual cases. In this study, we review our institutional experience with next-generation sequencing (NGS)-based molecular profiling for non-GI stromal tumors sarcomas, with a focus on the clinical utility of the results.
Patients And Methods:
We retrospectively analyzed results of NGS performed on tumors from 114 patients with a diagnosis of sarcoma. A chart review was conducted to review the clinical impact of NGS findings.
Results:
A median of three putatively oncogenic gene alterations were identified per tumor sample (range, 0 to 19) and at least one mutation was detected in 96.7% of tumors. Fifty-six patients (49.1%) harbored a finding that was felt to be actionable after review by a molecular tumor board. Five patients (4.4%) had a diagnosis change as a result of NGS findings. In 15 patients (13.2%), therapeutic selection was influenced by NGS findings. Four of 15 (26.7%) of the NGS-influenced systemic therapies resulted in clinical benefit.
Conclusion:
Putatively oncogenic mutations are readily detected in the majority of sarcomas. Genetic profiling affected the diagnosis and/or treatment approach in a sizeable minority of patients with sarcoma treated at our center. Additional study is required to determine if genetic profiling leads to improved clinical outcomes.
Insights
Next-generation sequencing (NGS) identified actionable mutations in nearly half of sarcoma patients, influencing diagnosis and treatment. This genetic profiling shows promise for tailoring sarcoma therapies.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Sarcomas are rare, diverse cancers requiring advanced treatment strategies.
- Current therapies for advanced sarcomas have limitations, necessitating personalized approaches.
Purpose of the Study:
- To evaluate the clinical utility of next-generation sequencing (NGS)-based molecular profiling in non-gastrointestinal stromal tumor (GI) sarcomas.
- To assess the impact of genetic findings on diagnosis and treatment selection.
Main Methods:
- Retrospective analysis of NGS data from 114 sarcoma patients.
- Chart review to determine the clinical impact of identified genetic alterations.
Main Results:
- Detected a median of three oncogenic gene alterations per tumor, with mutations in 96.7% of samples.
- Identified actionable mutations in 49.1% of patients, leading to diagnostic changes in 4.4% and influencing treatment in 13.2%.
- Achieved clinical benefit in 26.7% of patients whose therapies were guided by NGS findings.
Conclusions:
- Oncogenic mutations are common in sarcomas, detectable via genetic profiling.
- Molecular profiling significantly impacted diagnosis and treatment for a notable proportion of patients.
- Further research is needed to confirm if genetic profiling improves overall clinical outcomes in sarcoma treatment.
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