Use of Specific Genetic Alteration s of Tumoral Cells Identified by the Next Generation Sequencing Techniques (NGS) to Follow Peripheral Samples of Children With Metastatic and/or High Risk Solid Tumor - NGSKids

Study Overview
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Brief Summary
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The search for genetic alterations in primary tumor by NGS techniques followed by the detection of these alterations in circulating tumor DNA and/or CTC/DTC present in peripheral samples (blood, cerebrospinal fluid, bone marrow, possibly urine) collected during several steps and after the treatment could be a tool to monitor the response during and after the treatment.

Official Title
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Use of Specific Genetic Alteration s of Tumoral Cells Identified by NGS to Follow Peripheral Samples of Children With Metastatic and/or High Risk Solid Tumor -

Conditions
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Metastatic and/or High Risk Solid Tumor of Children

Intervention / Treatment
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* Biological: Tumoral specific genetic alterations
* Biological: Tumoral specific genetic alterations


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Children with metastatic and/or high risk solid tumor, of the following pathologies : Neuroblastoma, sarcoma, malignant brain tumor (medulloblastoma, high-grade glioma), bone tumors, rhabdoid tumors, others rare tumors Availability of a frozen tumoral sample (primary tumor or metastasis whatever the localization) at diagnosis allowing analysis of genetic alterations by a NGS technique Age < 18 years Signed informed consent by parents or legal representatives Patient having health care insurance Exclusion Criteria : Age ≥ 18 years No signed informed consent by parents or legal representatives

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Tumoral specific genetic alterations<br>NGS techniques (next generation sequencing) will be used to identify specific genetic alterations of tumoral cells of a patient. If specific genetic alterations is detected, they will be used to detect circulating tumor DNA and/or circulating/disseminated tumoral cells (CTC/DTC) in peripheral samples (blood, bone marrow, cerebral spinal fluid) collected before, during and after treatment. | Biological: Tumoral specific genetic alterations<br>* A buccal swab and a blood sample will be used at the diagnostic to identify the specific genetic alterations of tumoral cells.<br>Biological: Tumoral specific genetic alterations<br>* Collection of blood (maximum 9 samples of 3 to 5 ml), bone marrow (maximum 3 samples of 3 to 5 ml) and cerebral spinal fluid (maximum 3 samples 500µl to 1ml).<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Detection by Polymerase Chain Reaction (PCR) of specific genetic alterations | Genetic alterations which have been previously detected by NGS technique in the tumor, in circulating tumoral DNA and/or CTC/DTC present in a blood sample at the inclusion. | at the inclusion | 
| Detection of specific genetic alterations of tumoral cells in peripheral samples | Detection of specific genetic alterations of tumoral cells in peripheral samples for which presence of tumoral cells has been confirmed by conventional clinic techniques (cytology, anatomopathology, immunohistochemistry | Up to 6 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Detection of genetic alterations in solid tumor pediatric samples | Use of identified genetic alterations in solid tumor pediatric samples to help to confirm diagnosis and prognosis and to search for new therapeutic targets | At the inclusion | 
| Change of CTC/DTC/circulating tumoral DNA levels detected by PCR targeting specific genetic alterations of tumoral cells in peripheral samples will be confronted to clinical features including patient outcome |  | Up to 6 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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high risk solid tumor pediatric, genetic alteration, Metastatic solid tumor pediatric