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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
The Utility of Next-Generation Sequencing in Advanced Breast and Gynecologic Cancers
Terrell E Jones1, Jian Zou2, George C Tseng2
1Department of Pathology, Presbyterian University Hospital, Pittsburgh, PA, USA.
Objectives:
Next-generation sequencing (NGS) has the potential to identify genetic alterations that are actionable with targeted therapy. Our objective was to identify the impact of NGS testing on advanced breast and gynecologic malignancies.
Methods:
A retrospective review of 108 patients who underwent NGS testing between 2015 and 2019 was performed. The NGS clinical action rate was calculated based on documentation of positive clinical action taken in cases with an actionable NGS result.
Results:
The 108 specimens tested included 35 breast cancers and 73 gynecologic malignancies, with most of the testing performed at Foundation Medicine (90%). Actionable mutation(s) were identified in 79 (73%) of 108 cases. The overall clinical action rate of NGS testing was 38% (30 of 79 cases). Overall, 47 (44%) of 108 patients died, all succumbing to disease. The average survival was 10.9 months. The survival difference between patients with actionable NGS result and targeted treatment, actionable NGS result but no targeted treatment, and patients with nonactionable NGS result was not significant (log-rank test, P = .5160).
Conclusions:
NGS testing for advanced breast and gynecologic cancers at our institution has a 38% clinical action rate. However, the increased clinical action rate over the years did not translate into improved survival.
Insights
Next-generation sequencing (NGS) identified actionable mutations in 73% of advanced breast and gynecologic cancers. However, the 38% clinical action rate did not improve patient survival.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Next-generation sequencing (NGS) offers potential for identifying genetic alterations actionable with targeted therapies.
- Assessing the clinical utility of NGS in advanced malignancies is crucial for treatment decisions.
Purpose of the Study:
- To evaluate the impact of NGS testing on advanced breast and gynecologic cancers.
- To determine the clinical action rate and survival outcomes associated with NGS results.
Main Methods:
- Retrospective review of 108 patients with advanced breast and gynecologic malignancies undergoing NGS testing (2015-2019).
- Calculation of the NGS clinical action rate based on documented clinical actions for actionable results.
- Survival analysis comparing groups based on NGS results and treatment received.
Main Results:
- NGS identified actionable mutations in 73% (79/108) of cases.
- The overall clinical action rate for NGS testing was 38% (30/79 actionable cases).
- No significant difference in survival was observed between patients with actionable NGS results (treated or untreated) and those with non-actionable results (P = .5160).
Conclusions:
- NGS testing in advanced breast and gynecologic cancers yields a 38% clinical action rate.
- Despite identifying actionable mutations, NGS did not translate to improved survival in this patient cohort.
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