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.
Liquid biopsy for BRAF mutations testing in non-small cell lung cancer: A retrospective study / Iaccarino, A.; Pisapia, P.; Pepe, F.; Sgariglia, R.; Nacchio, M.; Russo, G.; Gragnano, G.; De Luca, C.; Troncone, G.; Malapelle, U.. - In: JOURNAL OF CLINICAL PATHOLOGY. - ISSN 0021-9746. - (2020), p. jclinpath-2020-207107. [10.1136/jclinpath-2020-207107]
Liquid biopsy for BRAF mutations testing in non-small cell lung cancer: A retrospective study
Iaccarino A.;Pisapia P.;Pepe F.;Sgariglia R.;Nacchio M.;Russo G.;Gragnano G.;De Luca C.;Troncone G.;Malapelle U.
2020
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.