@article{JTD15066,
author = {Pasquale Pisapia and Francesco Pepe and Riccardo Smeraglio and Maria Russo and Danilo Rocco and Roberta Sgariglia and Mariantonia Nacchio and Caterina De Luca and Elena Vigliar and Claudio Bellevicine and Giancarlo Troncone and Umberto Malapelle},
title = {Cell free DNA analysis by SiRe ® next generation sequencing panel in non small cell lung cancer patients: focus on basal setting},
journal = {Journal of Thoracic Disease},
volume = {9},
number = {Suppl 13},
year = {2017},
keywords = {},
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.},
issn = {2077-6624}, url = {https://jtd.amegroups.org/article/view/15066}
}