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Diagnostics Liquid biopsy, Hematology, Oncology

Plasma Mutation Profiling

Lung cancer kills more people each year than colon, breast, and prostate cancers combined (1), so there is great incentive to improve testing and better direct treatments – especially for non-small cell lung cancer (NSCLC), which represents 85 percent of all cases (2).

To explore the potential of adding plasma cell-free DNA testing – via an ultrasensitive amplicon-based next-generation sequencing panel (plasma NGS testing) – into the lung cancer workflow, researchers recruited 71 patients with suspected lung cancer and collected both blood and diagnostic tissue samples (3). Ultimately, they showed that plasma NGS offers shorter reporting times, similar specificity and accuracy to standard methods, and higher sample accessibility levels (for the 54 confirmed NSCLC patients, successful tissue samples were acquired from 70.3 percent of participants, whereas  98 percent of participants were able to provide blood samples).

Plasma NGS testing also showed a 26.8 percent additional diagnostic yield in cases where tissue EGFR testing was negative or absent, including the detection of five clinically actionable EGFR mutations across 16 patients in whom tissue testing was not performed.

Specifically within the group of patients who had NSCLC, the addition of plasma NGS to the standard tests detected actionable mutations in 42.6 percent of cases; standard tissue EGFR testing alone led to clinical actionability in only 22.2 percent. As a result, the authors concluded that complementary plasma mutation profiling carries clear clinical utility in lung cancer testing.

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  1., “Key Statistics for Lung Cancer,” (2022). Available at:
  2. JR Molina et al., Mayo Clin Proc, 83, 584 (2008). PMID: 18452692.
  3. Y Choudhury et al., Front Med, 9, 758464 (2022). PMID: 35223889.
About the Author
George Francis Lee

Deputy Editor, The Pathologist

Interested in how disease interacts with our world. Writing stories covering subjects like politics, society, and climate change.

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