Smeraglio, Riccardo (2021) Development of an integrable RNA based Gene Panel for Next-Generation Sequencing of Clinically Relevant Gene Fusions in Non-Small Cell Lung Cancer Patients. [Tesi di dottorato]
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| Tipologia del documento: | Tesi di dottorato |
|---|---|
| Lingua: | English |
| Titolo: | Development of an integrable RNA based Gene Panel for Next-Generation Sequencing of Clinically Relevant Gene Fusions in Non-Small Cell Lung Cancer Patients |
| Autori: | Autore Email Smeraglio, Riccardo riccardosmeraglio@hotmail.it |
| Data: | 1 Febbraio 2021 |
| Numero di pagine: | 35 |
| Istituzione: | Università degli Studi di Napoli Federico II |
| Dipartimento: | Sanità Pubblica |
| Dottorato: | Sanità pubblica e medicina preventiva |
| Ciclo di dottorato: | 33 |
| Coordinatore del Corso di dottorato: | nome email Troncone, Giancarlo giancarlo.troncone@unina.it |
| Tutor: | nome email Troncone, Giancarlo [non definito] |
| Data: | 1 Febbraio 2021 |
| Numero di pagine: | 35 |
| Parole chiave: | NSCLC; ALK; NTRK; RET; MET; ROS1; Gene Fusion; Gene Arrangement; IHC; FISH; NGS; |
| Settori scientifico-disciplinari del MIUR: | Area 06 - Scienze mediche > MED/08 - Anatomia patologica |
| Depositato il: | 22 Feb 2021 11:54 |
| Ultima modifica: | 07 Giu 2023 11:07 |
| URI: | http://www.fedoa.unina.it/id/eprint/14027 |
Abstract
Non-small cell lung cancer (NSCLC) still represents the main cause of cancer mortality worldwide. However, targeted treatments have significantly improved the clinical outcome of those patients with non-squamous NSCLC harboring not only point mutations and indertions/deletions (indels), but also gene rearrangements. Currently, immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) are considered the "gold standard" methodologies for the identification of these genomic alterations but feature some technical and interpretative limitations. Therefore, the aim of this study is to validate a novel narrow custom next generation sequencing gene panel, termed SiRe gene fusion panel, able to detect gene rearrangements and other aberrations (such MET exon 14 skipping) for the administration of specific tyrosine kinase inhibitors.
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