Liquid biopsy for BRAF mutations testing in non-small cell lung cancer: A retrospective study

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Abstract

V-Raf murine sarcoma viral oncogene homolog B (BRAF) gene mutations have recently been approved to select advanced stages non-small cell lung cancer (NSCLC) patients for tyrosine kinase inhibitors treatments. In this setting, liquid biopsy may represent a valuable option for BRAF mutational testing in patients without tissue availability. Here, we reviewed 196 plasma based liquid biopsies analysed by an in-house developed next generation sequencing panel, termed SiRe. On the overall, 6 (3.1%) out of 196 BRAF mutated cases were identified, with an overall median allelic frequency of 3.4%. Exon 15 p.V600E was the most common detected mutation (2/6, 33.3%). Our data highlighted that the SiRe panel is a robust tool for BRAF mutation assessment on circulating tumour DNA. Further investigation is required to develop a diagnostic algorithm to harmonise BRAF testing on tissue and blood in advanced stages NSCLC patients.

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Iaccarino, A., Pisapia, P., Pepe, F., Sgariglia, R., Nacchio, M., Russo, G., … Malapelle, U. (2022). Liquid biopsy for BRAF mutations testing in non-small cell lung cancer: A retrospective study. Journal of Clinical Pathology, 75(1), 58–60. https://doi.org/10.1136/jclinpath-2020-207107

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