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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pediatric patients with brain tumors | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genomic DNA analysis of biological samples | Diagnostic Test | Analysis of genomic DNA from tumor biopsy and blood samples |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of Single Nucleotide Variants (SNV) | Number of SNVs germline in DNA from tumor and blood samples | At enrollment and on the date of first documented progression assessed up to 12 months |
| Number of copy number variations (CNVs) | Number of copy number variations (CNVs) in DNA from tumor and blood samples | At enrollment and on the date of first documented progression assessed up to 12 months |
| Number of triplet expansions | Number of triplet expansions in DNA from tumor and blood samples | At enrollment and on the date of first documented progression assessed up to 12 months |
| Number of structural variants (SVs) | Number of structural variants (SVs) in DNA from tumor and blood sample | At enrollment and on the date of first documented progression assessed up to 12 months |
| Morphological description of three-dimensional models derived from the tumour | At enrollment and on the date of first documented progression assessed up to 12 months | |
| Vitality of three-dimensional models derived from the tumour | At enrollment and on the date of first documented progression assessed up to 12 months | |
| Proliferative activity of three-dimensional models derived from the tumour | At enrollment and on the date of first documented progression assessed up to 12 months | |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Iacopo Sardi | Contact | 0555662631 | iacopo.sardi@meyer.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Meyer Children's Hospital IRCCS | Recruiting | Florence | Firenze | Italy |
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| Percentage of residual cell vitality after drug treatment |
| At enrollment and on the date of first documented progression assessed up to 12 months |
| Dose-response curves for each drug tested | Ex vivo chemosensitivity study on three-dimensional models derived from primary tumour cells | At enrollment and on the date of first documented progression assessed up to 12 months |