Development of a ctDNA liquid biopsy approach integrated in the management of patients with non-small cell lung carcinoma (NSCLC), gastrointestinal stromal tumor (GIST), colorectal carcinoma (CRC) and melanoma
| Componente | Categoria |
|---|---|
| Paola Gazzaniga | Componenti il gruppo di ricerca / Participants in the research project |
| Enrico Cortesi | Componenti il gruppo di ricerca / Participants in the research project |
| Componente | Qualifica | Struttura | Categoria |
|---|---|---|---|
| Rosalba Lucia Grillo | Director of the Clinical Pathology Unit | San Camillo-Forlanini Hospital (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Rita Migliorino | Director of the Pneumoncology Unit | San Camillo-Forlanini Hospital (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Paola De Simone | MD, specialist in Oncological Dermatology | IFO - San Gallicano Hospital (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Giuseppe Maria Ettorre | MD, Director of the Transplant Department | San Camillo-Forlanini Hospital (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Pasquale Frascione | Director of the Oncological Dermatology Unit | IFO - San Gallicano Hospital (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Irene Bottillo | PhD, Medical Genetics Biologist | San Camillo-Forlanini Hospital (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Francesco Binni | Medical Genetics Biotechnologist | San Camillo-Forlanini Hospital (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Alan Gelibter | MD, specialist in Oncology | Policlinico Umberto I (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
| Angela Gradilone | Biologist | Policlinico Umberto I (Rome, Italy) | Altro personale Sapienza o esterni / Other personnel Sapienza or other institution |
The analysis of cancer genetic alterations is used for diagnostic, prognostic and treatment purposes, and recently also for monitoring the Tumor Mutational Burden (TMB) in response to immunotherapy. These tests are usually performed using the DNA and/or RNA obtained from a fragment of the primary tumor or from a metastasis. However, tissue biopsies may not always be easily performed because of their invasive nature. Liquid biopsy based on circulating free DNA (cfDNA) is a non-invasive technique for the detection of mutations in tumor DNA circulating in plasma or serum (ctDNA, circulating tumor DNA).
This project aims to develop a liquid biopsy approach for application in clinical practice, by the Next Generation Sequencing (NGS) of ctDNA. The first Task will refer to the validation of the SiRe NGS panel as a non-invasive predictive biomarker of response to molecularly targeted therapies. Patients with advanced CRC, NSCLC, melanoma and GIST will be enrolled and mutations in six clinically relevant genes (EGFR, KRAS, NRAS, BRAF, cKIT, PDGFRa) will be analysed by SiRe on plasma and serum.
The second Task will concern the development and validation of a TMB NGS protocol of liquid biopsy for the management of NSCLC patients candidate to immunotherapy. The TMB-panel will investigate if the mutational status at multiple loci, as a surrogate for high TMB, might be a biomarker of response to immunotherapies.
The main objective of this project is to establish the applicability of ctDNA liquid biopsy by NGS in a clinical context. The final aim is the successful treatment and management of oncologic patients by non-invasive blood-based markers.