Ricerc@Sapienza

Osteosarcoma (OS) is the most common paediatric primary bone tumour; the survival is related to the response to chemotherapy and development of metastases. Moreover, it is a highly metastatic tumour, and pulmonary metastases are the most common cause of death. Recent evidences showed that in osteosarcoma primary tumours are genetically homogeneous but epigenetically heterogeneous and this heterogeneity increased in metastatic disease. In a previous whole exome study, we observed an involvement of KMT2C in the carcinogenesis of OS. This gene has never been studied in OS and we found that it was expressed in OS samples. Particularly, we performed the immunohistochemical and gene expression analysis of KMT2C in 32 samples of patients with diagnosis of OS with known clinic-pathological data and we analysed the expression of genes involved in the metastatic pathway in four OS cell lines by blocking the KMT2C expression using siRNA. We found a nuclear-cytoplamic trafficking of KMT2C and the cytoplasmic localization was higher than the nuclear localization (p