Open AccessClinical feasibility of NGS liquid biopsy analysis in NSCLC patients
Author(s) -
Eirini Papadopoulou,
Nikolaos Tsoulos,
Katerina Tsantikidi,
Vasiliki MetaxaMariatou,
Pinelopi Eleftheria Stamou,
Athina Kladi-Skandali,
Evgenia Kapeni,
Georgios N. Tsaousis,
George Pentheroudakis,
Dimitrios Petrakis,
Dimitra Ioanna Lampropoulou,
Gerasimos Aravantinos,
Ioannis Varthalitis,
George Kesisis,
Ioannis Boukovinas,
Pavlos Papakotoulas,
Nikolaos Katirtzoglou,
Elias Athanasiadis,
Flora Stavridi,
Christos Christodoulou,
Anna Koumarianou,
Yeşim Eralp,
George Nasioulas
Publication year - 2019
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0226853
Subject(s) - concordance , liquid biopsy , medicine , t790m , biopsy , lung cancer , oncology , mutation , cancer , targeted therapy , digital polymerase chain reaction , pathology , gefitinib , polymerase chain reaction , gene , biology , epidermal growth factor receptor , genetics
Background Analysis of circulating tumor nucleic acids in plasma of Non-Small Cell Lung Cancer (NSCLC) patients is the most widespread and documented form of "liquid biopsy" and provides real-time information on the molecular profile of the tumor without an invasive tissue biopsy. Methods Liquid biopsy analysis was requested by the referral physician in 121 NSCLC patients at diagnosis and was performed using a sensitive Next Generation Sequencing assay. Additionally, a comparative analysis of NSCLC patients at relapse following EGFR Tyrosine Kinase Inhibitor (TKIs) treatment was performed in 50 patients by both the cobas and NGS platforms. Results At least one mutation was identified in almost 49% of the cases by the NGS approach in NSCLC patients analyzed at diagnosis. In 36 cases with paired tissue available a high concordance of 86.11% was observed for clinically relevant mutations, with a Positive Predictive Value (PPV) of 88.89%. Furthermore, a concordance rate of 82% between cobas and the NGS approach for the EGFR sensitizing mutations (in exons 18, 19, 21) was observed in patients with acquired resistance to EGFR TKIs, while this concordance was 94% for the p.T790M mutation, with NGS being able to detect this mutation in three 3 additional patients. Conclusions This study indicates the feasibility of circulating tumor nucleic acids (ctNA) analysis as a tumor biopsy surrogate in clinical practice for NSCLC personalized treatment decision making. The use of new sensitive NGS techniques can reliably detect tumor-derived mutations in liquid biopsy and provide clinically relevant information both before and after targeted treatment in patients with NSCLC. Thus, it could aid physicians in treatment decision making in clinical practice.