Osteosarcoma (OS) is the most common primary bone tumour in children and in young adults. An
invasive biopsy is required to provide a definitive diagnosis and to identify the histological subtypes of
osteosarcoma. Despite the intensive combined therapy, outcome remains poor, and patients with
relapsed and unresectable metastatic disease also at the time of the diagnosis have few options. So, nowadays, OS remains the second cause of cancer related death for children and young adults. The hope for patients with OS is the development of novel, precise and more effective target therapies based on the molecular characterization of this bone cancer. Therefore, the research focused on better understanding about the OS biology, pathogenesis and therapy resistance is mandatory to make advances to create a better diagnostic and therapeutic system, reducing the morbidity and mortality among patients. Consequently with this project on the molecular and cellular OS studies we will try to make several crucial steps forward about the cellular and the molecular mechanisms which could be at the base of the pathogenesis and of the resistance to therapies of the OS. Since little is known at genetic level about the pathogenesis of osteosarcomas, which typically harbour complex karyotypes, we propose to carry out a whole genome analysis study to identify the driver mutation(s) that lead to the development and progression of OS. We think that only an integrate analysis of the entire genome, exome, transcriptome and miRNome related at the same time to the study of the biological mechanisms carry out by two particular osteosarcoma cellular subpopulations (i.e the osteosarcoma cancer stem cells and the circulating tumour cells) will permit to have a clear knowledge about the pathogenesis of the osteosarcoma and which could be the molecular biomarker which could be used to develop new and more effective therapies and also new and less invasive diagnostic system. The research network will recruit 30 healthy volunteers and 30 patients with diagnosed OS (with and without metastases). The research network will follow the osteosarcoma patient from the diagnosis to the follow up during the treatment to (a) identify the molecular target which could be the biomarkers for the presence of the cancer, (b) monitor the response to therapy treatment evaluating the changes of the biomarkers expression levels, (c) identify genome alterations which could be related to the pathogenesis of OS and to the therapy resistance and (d) study the biology and the molecular system of the two neoplastic cellular subpopulations (cancer stem cells and circulating cancer cells) which are probably responsible of the therapy resistance and tumour relapse and metastasis in OS patients.
In conclusion, all the data obtained will be used to develop a new system to early and simply diagnose the OS, to monitor the progression of the OS and t o detect the presence of the two neoplastic cellular subpopulations.
Responsabile: Teresa Iantomasi
Data inizio: 09.10.20
Data conclusione: 08.04.25
CUP n. B54I20002750002
Progetto finanziato dalla Regione Toscana nell'ambito del Bando regionale Ricerca Salute 2018
COSTO COMPLESSIVO |
CONTRIBUTO REGIONE |
BENEFICIARI |
PARTNER |
COSTO COMPLESSIVO PER PARTNER |
CONTRIBUTO REGIONE PER PARTNER |
1.000.000,00 |
368.679,00 |
Università degli Studi di Firenze |
capofila |
236.500,00 |
87.192,58 |
AOU PISANA |
partner |
104.000,00 |
38.342,62 |
||
Università di Pisa |
partner |
115.000,00 |
42.398,09 |
||
Fondazione pisana per la scienza |
partner |
374.500,00 |
138.070,29 |
||
Istituto di Nanoscienze – CNR |
partner |
170.000,00 |
62.675,43 |
Ultimo aggiornamento
29.04.2025