Rossi, Tania
(2024)
Phenotypic and molecular investigation of circulating tumor cells (CTCs) isolated from breast cancer patients at single cell resolution, [Dissertation thesis], Alma Mater Studiorum Università di Bologna.
Dottorato di ricerca in
Scienze biomediche e neuromotorie, 36 Ciclo.
Documenti full-text disponibili:
Abstract
Despite the paramount advances in cancer research, breast cancer (BC) still ranks one of the leading causes of cancer-related death worldwide. Thanks to the screening campaign started in developed countries, BC is often diagnosed at early stages (non-metastatic BC, nmBC), but disease relapse
occurrence even after decades and at distant sites is not an uncommon phenomenon. Conversely, metastatic BC (mBC) is considered an incurable disease. The major perpetrators of tumor spread to secondary organs are circulating tumor cells (CTCs), a rare population of cells detectable in the peripheral blood of oncologic patients. In this study, CTCs from patients diagnosed with luminal nmBC and mBC (hormone receptor positive, Human Epidermal Growth Factor Receptor 2 (HER2) negative) were characterized at both phenotypic and molecular levels. To better understand the molecular mechanisms underlying their biology and their metastatic potential, next-generation sequencing (NGS) analyses were performed at single-cell resolution to assess copy number aberrations (CNAs), single nucleotide variants (SNVs) and gene expression profiling. The findings of this study arise hints in CTC detection, and pave the way to new application in CTC research.
Abstract
Despite the paramount advances in cancer research, breast cancer (BC) still ranks one of the leading causes of cancer-related death worldwide. Thanks to the screening campaign started in developed countries, BC is often diagnosed at early stages (non-metastatic BC, nmBC), but disease relapse
occurrence even after decades and at distant sites is not an uncommon phenomenon. Conversely, metastatic BC (mBC) is considered an incurable disease. The major perpetrators of tumor spread to secondary organs are circulating tumor cells (CTCs), a rare population of cells detectable in the peripheral blood of oncologic patients. In this study, CTCs from patients diagnosed with luminal nmBC and mBC (hormone receptor positive, Human Epidermal Growth Factor Receptor 2 (HER2) negative) were characterized at both phenotypic and molecular levels. To better understand the molecular mechanisms underlying their biology and their metastatic potential, next-generation sequencing (NGS) analyses were performed at single-cell resolution to assess copy number aberrations (CNAs), single nucleotide variants (SNVs) and gene expression profiling. The findings of this study arise hints in CTC detection, and pave the way to new application in CTC research.
Tipologia del documento
Tesi di dottorato
Autore
Rossi, Tania
Supervisore
Co-supervisore
Dottorato di ricerca
Ciclo
36
Coordinatore
Settore disciplinare
Settore concorsuale
Parole chiave
CTC; single cell analysis; NGS; liquid biopsy; RNA-sequencing; copy number aberrations; single nucleotide variants; breast cancer
URN:NBN
Data di discussione
21 Marzo 2024
URI
Altri metadati
Tipologia del documento
Tesi di dottorato
Autore
Rossi, Tania
Supervisore
Co-supervisore
Dottorato di ricerca
Ciclo
36
Coordinatore
Settore disciplinare
Settore concorsuale
Parole chiave
CTC; single cell analysis; NGS; liquid biopsy; RNA-sequencing; copy number aberrations; single nucleotide variants; breast cancer
URN:NBN
Data di discussione
21 Marzo 2024
URI
Gestione del documento: