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Identifier 000452788
Title Comparison of molecular testing methods for tissue-based detection of EGFR mutations in parents with early-stage or metastatic non-small cell lung cancer
Alternative Title Σύγκριση μεθόδων για την ανίχνευση σωματικών μεταλλάξεων στο γονίδιο EGFR ε δείγματα ασθενών με πρώιμο ή μεταστατικό καρκίνο του πνεύμονα
Author Καρνιαδάκης, Ιωάννης
Thesis advisor Κουτσόπουλος, Αναστάσιος
Reviewer Κουκουράκη, Σοφία
Βασιλακοπούλου, Μαρία
Abstract Personalized therapies informed by the detection of actionable genomic biomarkers have radically modified the disease course in a considerable fraction of patients with NSCLC, including those carrying EGFR mutations predictive of sensitivity to EGFR tyrosine kinase inhibitors (TKIs). Moreover, the current approval of Osimertinib, a third generation TKI in the adjuvant setting, necessitates molecular testing for EGFR in all patients with non-squamous NSCLC undergoing resection. Although NGS is the method of choice for tumor molecular profiling, the implementation of NGS in the routine clinical practice is not always feasible. This is mainly attributed to the fact that NGS requires complex and expensive infrastructure, sophisticated pre-analytics (with a variety of possible sources of errors), and highly skilled staff, and therefore is often not feasible in smaller pathological laboratories. Most importantly, NGS has turnaround times that may cause potentially harmful delays in the clinical management of rapidly progressing patients. A viable alternative to NGS for a rapid assessment of EGFR mutational status is the Idylla EGFR mutation test. Idylla gene-specific cartridges are also available for other clinically important genes NSCLC, including KRAS, BRAF and NRAS and also for different types of specimens including liquid biopsy samples. The Idylla EGFR mutation test detects 51 EGFR mutations inFFPE samples approximatively in a 150 minutes time, with a limit of detection of ≤5% for most prevalent EGFR mutations. Given all the above, the primary objectives of the study were: a) to evaluate the performance of the novel fully-automated PCR-based Idylla system for the detection of EGFR hotspot mutations on FFPE NSCLC samples, b) to assess the EGFR mutation concordance rates and to measure the time to result between the Sanger sequencing testing and the Idylla system for EGFR mutation testing in NSCLC patients. A comparable rapid testing platform for EGFR may serve as a more accessible means to diagnose, and overall, more patients treated successfully with targeted therapies. In this study, we confirmed the good sensitivity and specificity of the Idylla system and mainly reported that EGFR mutation detection with this assay is associated with a significantly reduced turnaround time compared to the use of Sanger testing. While comprehensive molecular screening is essential in academic centers with access to clinical trials, it is questionable in smaller centers who do not have access to NGS assays. In those centers, Idylla assays can be part of the solution to improving the time to initiate therapies in advanced disease NSCLC patients. In conclusion, this study data, besides confirming that Sanger sequencing and Idylla are both accurate to detect EGFR activating mutations, show that the Idylla system is a viable option for rapid and sensitive genotyping of EGFR in NSCLC patients.
Language English
Subject Αλληλούχιση κατά sanger
Σωματικές μεταλλάξεις
Issue date 2022-12-07
Collection   School/Department--School of Medicine--Department of Medicine--Post-graduate theses
  Type of Work--Post-graduate theses
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