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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
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Καρνιαδάκης, Ιωάννης
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Thesis advisor
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Κουτσόπουλος, Αναστάσιος
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Reviewer
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Κουκουράκη, Σοφία
Βασιλακοπούλου, Μαρία
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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.
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Language |
English |
Subject |
Αλληλούχιση κατά sanger |
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Σωματικές μεταλλάξεις |
Issue date |
2022-12-07 |
Collection
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School/Department--School of Medicine--Department of Medicine--Post-graduate theses
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Type of Work--Post-graduate theses
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Permanent Link |
https://elocus.lib.uoc.gr//dlib/7/d/0/metadata-dlib-1670586635-532650-19933.tkl
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Views |
344 |
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