Identifying osteosarcoma metastasis associated genes by WES

Proponente Carlo Della Rocca - Professore Ordinario
Sottosettore ERC del proponente del progetto
Componenti gruppo di ricerca
Componente Categoria
Claudio Di Cristofano Componenti strutturati del gruppo di ricerca
Stefano Gumina Componenti strutturati del gruppo di ricerca
Componente Qualifica Struttura Categoria
Caterina Chiappetta Dirigente biologo Azienda ospedaliero-universitaria Policlinico Umberto I Altro personale aggregato Sapienza o esterni, titolari di borse di studio di ricerca

Osteosarcoma is the most common malignant tumour of the bone; it is the cause of more than 10% of malignant tumours in young adults. Although the survival rate has improved considerably after the introduction of neoadjuvant chemotherapy and surgery, metastatic or recurrent disease still occurs. Osteosarcoma frequently metastasizes especially to the lung and the 5-year survival rate for patients with metastases at the time of diagnosis is only 20¿28%. For this reason, it is essential to investigate new target therapies for osteosarcoma to increase the survival of the patients. In our previous analysis we found that 15 genes (ALDH1L2, BCLAF1, CLCN1, COG3, DIS3, ERBB4, KARS, OR52N1, PDE6C, PDHX, SCN8A, SP140L, THBS1, UBE4A and ZNF12) were mutated only in patients that did not respond to treatment and that developed metastasis, the so-called ¿not responder¿ patients. In this project, our intention is to analyse these gene by WES in a large coorte of high-grade osteosarcoma patients and to study their gene expression profile by RealTime-PCR to corroborate our hypothesis that these genes are involved in metastatic progression of osteosarcoma patients. The goal will be to improve the knowledge of these genes in osteosarcoma metastatic progression; indeed, the project seeks to accelerate research in osteosarcoma treatment, will permit closer therapy monitoring and might help to identify patients at risk earlier to develop metastasis, allowing to a personalized treatment.

LS4_6, LS2_5, LS2_12

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