Cell free DNA analysis by SiRe® next generation sequencing panel in non small cell lung cancer patients: focus on basal setting. - PubMed - NCBI
J Thorac Dis. 2017 Oct;9(Suppl 13):S1383-S1390. doi: 10.21037/jtd.2017.06.97.
Cell free DNA analysis by SiRe® next generation sequencing panel in non small cell lung cancer patients: focus on basal setting.
Pisapia P1,
Pepe F1,
Smeraglio R1,
Russo M1,
Rocco D2,
Sgariglia R1,
Nacchio M1,
De Luca C1,
Vigliar E1,
Bellevicine C1,
Troncone G1,
Malapelle U1.
Abstract
BACKGROUND:
Non small cell lung cancer (NSCLC) is diagnosed in most cases on small tissue samples, such as cytological preparations and histological biopsies; these limited tissue specimens may be not always sufficient for testing epidermal growth factor receptor (EGFR) mutations and other relevant predictive biomarkers. Cell-free DNA (cfDNA) can be used as a surrogate for EGFR mutational testing, whenever tissue is unavailable. However, the detection of gene mutations on cfDNA is challenging; in fact, the extremely low concentration of circulating tumor DNA requires the implementation of highly sensitive and validated next generation techniques. METHODS:
Thus, we have recently validated a novel next generation sequencing (NGS) assay, employing the SiRe® gene panel to detect on cfDNA mutations of EGFR and KRAS, NRAS, BRAF, cKIT and PDGFR genes. In this current study, we report on a series of NSCLC patients, without available tissue for EGFR testing, who prospectively underwent SiRe® NGS analysis. RESULTS:
The results confirm the high clinical performance, in terms of success rate and mutation detection, of NGS based analysis of cfDNA. CONCLUSIONS:
SiRe® NGS panel represent an effective diagnostic tool in cfDNA analysis setting. KEYWORDS:
Liquid biopsy; next generation sequencing (NGS); non small cell lung cancer (NSCLC); tyrosine kinase inhibitors (TKIs)
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