Metastatic and/or High Risk Solid Tumor of Children
Conditions
Keywords
high risk solid tumor pediatric, genetic alteration, Metastatic solid tumor pediatric
Brief summary
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.
Interventions
A buccal swab and a blood sample will be used at the diagnostic to identify the specific genetic alterations of tumoral cells.
Sponsors
Study design
Eligibility
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Detection by Polymerase Chain Reaction (PCR) of specific genetic alterations | at the inclusion | 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. |
| Detection of specific genetic alterations of tumoral cells in peripheral samples | Up to 6 years | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Detection of genetic alterations in solid tumor pediatric samples | At the inclusion | Use of identified genetic alterations in solid tumor pediatric samples to help to confirm diagnosis and prognosis and to search for new therapeutic targets |
| 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 | — |
Countries
France