2022 World Conference on Lung Cancer (ePosters)-EP16.02-007. Detection of Clinically Relevant Fusions and Exon Skipping Alterations in Non Small Cell Lung Cancer Patients Liquid Biopsies

EP16.02-007. Detection of Clinically Relevant Fusions and Exon Skipping Alterations in Non Small Cell Lung Cancer Patients Liquid Biopsies

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Researchers in Spain have developed techniques to detect gene fusions and exon skipping alterations in liquid biopsies from non-small cell lung cancer (NSCLC) patients. The availability of tumor tissue can be limited in NSCLC patients, so using liquid biopsies can provide an alternative way to detect these alterations. The researchers used nCounter and digital PCR (dPCR) to analyze plasma, cerebrospinal fluid, and pleural fluid samples from NSCLC patients. They extracted circulating cell-free RNA (cfRNA) and RNA from extracellular vesicles (EV-RNA) and then quantified and analyzed the RNA samples. <br /><br />The results showed that both nCounter and dPCR techniques were effective in detecting fusion and exon skipping alterations in cfRNA and EV-RNA samples. The nCounter technique detected ALK, ROS1, RET, and METex14 aberrant transcripts in 70% of cfRNA samples with 100% specificity. The dPCR technique confirmed the presence of these aberrant transcripts in 61% of the positive cfRNA samples. The aberrant transcripts were found to be mutually exclusive in the positive cfRNA samples. <br /><br />For EV-RNA samples, dPCR had a sensitivity of 39% in detecting ALK fusion transcripts compared to tumor tissue, while nCounter detected aberrant transcripts in only three samples. <br /><br />Overall, the combination of nCounter and dPCR techniques enabled the detection of tumor mutations in 70% of cfRNA samples and 43% of EV-RNA samples. These findings demonstrate the feasibility of using liquid biopsies to detect fusion and exon skipping alterations in NSCLC patients.

Asset Subtitle

Estela Sánchez-Herrero

Meta Tag

Speaker Estela Sánchez-Herrero

Topic Tumour Biology and Biomarkers - Minimally Invasive Biomarkers

Keywords

Spain

gene fusions

exon skipping alterations

liquid biopsies

non-small cell lung cancer

nCounter

digital PCR

cfRNA

EV-RNA

aberrant transcripts