Monitoring of lung adenocarcinoma patientes through the study of large chromosomal rearrangements in liquid biopsy

• Autor(a) principal: Coelho, Sandra Catarina Vicente
• Data de Publicação: 2020
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.22/17535
• topic: Lung cancer; Liquid Biopsy; Low-Pass Whole Genome Sequencing; Chormosomic Alterations

Charactreization of solid tumours is possible throught tissue biopsy. However, it has limitations: (i) it may not provide information on tumor heterogeneity, (ii) it does not allow monitorin of treatment evolution due to the invasiveness of the biopsy, and (iii) in advanced disease, it does not provide information of the metastatic lesions. Liquide biopsy emerged in oncology as an alternative approach that uses tumor genetic information shed into the blood by apoptotic tumor cells. Although liquid biopsy has the potential to overcome the limitations of tissue biopsy, it is still not a reality to all types of cancer patients. The objective was to develop a stategy to monitor clinical evolution of cancer patientes using liquid biopsy, with Low-Pass Whole Genome Sequencing. Genomic DNA (gDNA) and DNA from cell culture medium were analyzed to optimize a protocol to study chromosomal profiles. The alterations found in the DNA from cell medium reflected the changes in gDNA. The methodology was used in tissue and plasma from patients. We absorved similar patterns between DNA from both samples, detected alterations involved in treatment resistance and validated this technique as a quality control. This study provides a tool that allows treatment monitoring and progression os patients.