Clinical significance of selected genes variations using targeted deep sequencing in non-small-cell lung cancer

Abstract

Context Non-small-cell lung cancer (NSCLC) is a heterogeneous disease. Most patients with lung cancer present with inoperable advanced stage and cannot tolerate chemotherapy, so they need targeted therapy, with high effectiveness and less toxicity. Aim The aim of this study was to identify the genetic variations of epidermal growth factor receptor (EGFR) and mesenchyme to epithelial transition (MET) genes in patients with NSCLC and their clinical significance in such cases. Settings and design This is a cross-sectional study. Patients and methods This study was conducted in the chest department and genetic signature center, Tanta University Hospital, on 60 patients of NSCLC who underwent tumor biopsy taking and then DNA isolation, but only 20 patients could continue the study after assessment of their samples for DNA quality. TruSight NSCLC panel was used for detection of different variants in two genes (EGFR and MET). Some patients with NSCLC were subjected to anti-EGFR target therapy. Results Overall, 25% of the patients with NSCLC had EGFR mutation (60% of these mutations are exon 19 deletions, 20% had exon 21 mutation in form of single base mutation, and 20% had exon 20 insertion mutation). Moreover, 10% had MET mutation, in the form of exon 14 mutation, and 5% had both EGFR and MET mutations. Conclusion EGFR and MET are important oncogenic targets for personalized target therapy in NSCLC, so genetic and molecular testing is mandatory for NSCLC cases.

Keywords

• epidermal growth factor receptor
• mesenchyme to epithelial transition
• next-generation sequencing
• non-small-cell lung cancer
• presented-atThe work was presented at the Faculty of Medicine
• Tanta University
• on 5 July 2018