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.

Cell free DNA analysis by SiRe® next generation sequencing panel in non small cell lung cancer patients: focus on basal setting / Pisapia, Pasquale; Pepe, F; Smeraglio, Riccardo; Russo, M; Rocco, D; Sgariglia, R; Nacchio, M; De Luca, C; Vigliar, E; Bellevicine, C; Troncone, G; Malapelle, U.. - In: JOURNAL OF THORACIC DISEASE. - ISSN 2072-1439. - 9:(2017), pp. 1383-1390.

Cell free DNA analysis by SiRe® next generation sequencing panel in non small cell lung cancer patients: focus on basal setting.

PISAPIA, PASQUALE;Pepe F;Smeraglio, Riccardo;Sgariglia R;Nacchio M;De Luca C;Vigliar E;Bellevicine C;Troncone G;Malapelle U.
2017

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.
2017
Cell free DNA analysis by SiRe® next generation sequencing panel in non small cell lung cancer patients: focus on basal setting / Pisapia, Pasquale; Pepe, F; Smeraglio, Riccardo; Russo, M; Rocco, D; Sgariglia, R; Nacchio, M; De Luca, C; Vigliar, E; Bellevicine, C; Troncone, G; Malapelle, U.. - In: JOURNAL OF THORACIC DISEASE. - ISSN 2072-1439. - 9:(2017), pp. 1383-1390.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/710375
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