Overview
Central nervous system tumours are the most common solid tumours and the leading cause of cancer mortality in children, with high biological and prognostic heterogeneity. Despite advances in the 2021 WHO molecular classifications, treatment options remain limited and often ineffective in high-grade tumours. New third-generation sequencing technologies and three-dimensional models derived from patient tumours offer promising tools for more comprehensive genomic characterisation and preclinical evaluation of drug responses. However, the lack of integrated preclinical studies remains a limitation, necessitating coordinated projects to develop personalised therapeutic strategies. The study aims to investigate the genetic and biological characteristics of paediatric brain tumours. To this end, tumour tissue samples taken during planned surgery and peripheral blood samples will be analysed. Advanced genetic analyses will be performed on these materials to identify tumour alterations and the patient's genetic characteristics. In addition, experimental in vitro models derived from the tumour will be developed to evaluate the response to different chemotherapy drugs. The information obtained will be used to better understand the mechanisms of tumour growth and resistance and to promote the future development of more targeted and personalised therapies.
Eligibility
Inclusion Criteria:
- Patients aged 3-18 years with suspected brain tumours undergoing neurosurgery
- No previous bone marrow transplants or other haematological procedures that could potentially interfere with germline analysis.
- Patients who have not received any systemic anticancer treatment (including chemotherapy, radiotherapy or targeted therapies) prior to enrolment surgery.
- Signature of informed consent
Exclusion Criteria:
- Subsequent histological confirmation of non-neoplastic brain pathology (e.g. malformations, inflammatory lesions, demyelinating processes).
- Insufficient quantity or quality of tumour tissue or peripheral blood for the analyses required by the protocol.
- Presence of serious clinical conditions, systemic infections or haemodynamic instability that contraindicate the collection of biological samples or inclusion in the study.
