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Identifier

000431651

Title

Υγρή βιοψία σε ασθενείς με μη μικροκυτταρικό καρκίνο του πνεύμονα: προφίλ μεταλλάξεων και σύγκριση με βιοψία ιστού

Alternative Title

Liquid biopsy in patients with non small cell lung cancer (NSCLC) : Mutations profile and comparison with tissue biopsy

Author

Καπένη, Ευγενία

Thesis advisor

Γεωργιάδης, Παναγιώτης

Abstract

Non small cell lung cancer (NSCLC) is one of the most common and fatal types of cancer worldwide. It is characterized by a majority of targeted mutations. The early detection of these mutations is important for the therapeutic choice and seems to have better clinical outcome. Additionally, tissue biopsy is often limited or absent, so there is a need of non invasive approaches. The analysis of circulating tumor nucleic acids (cTNA) in plasma of patients is a form of “liquid biopsy” which provides real time information about the molecular profile of the tumor, without invasive tissue biopsy. The aim of this study was the determination of mutations profile and frequency which are detected in liquid biopsies of patients with non small cell lung cancer. The analysis was performed with next generation sequencing, a technique with high sensitivity which can reliably detect mutations and provide relative clinical information. At first, a study was performed using samples from tissue and plasma of 70 patients in order to evaluate the sensitivity and specificity of each methodology. Then, analysis of plasma samples of 88 patients with NSCLC was occurred. It was proven that the sensitivity of next eneration sequencing of circulating tumor nucleic acids is 81,82%, the specificity is 94,44% and there is a 85,92% concordance in comparison with application of this technology at tissue samples. The analysis showed that the detection of therapeutically targeted mutations is possible, as the 19% of the patients had mutation at the EGFR gene, 12,5% at the RAS gene, 7% at the PIK3CA gene and 4,5% at ERBB2. In conclusion, the application of new sensitive techniques of NGS can reliably detect mutations and provide important clinical information. The analysis of circulating tumor DNA (ctDNA) as substitute of tissue biopsy in everyday clinical practice seems to be particularly useful in decision making of individualized treatment for patients with NSCLC.

Language

Greek, English

Subject

Ιατρική ακριβείας

Issue date

2020-08-05

Collection

School/Department--School of Medicine--Department of Medicine--Post-graduate theses

Type of Work--Post-graduate theses

Permanent Link

https://elocus.lib.uoc.gr//dlib/f/4/a/metadata-dlib-1598873894-121700-19722.tkl