Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia

  • End date
    Dec 25, 2022
  • participants needed
  • sponsor
    University Hospital, Montpellier
Updated on 25 March 2021


Background. Cancer is the leading cause of death by disease in children. Most pediatric tumors differ from adult tumors in terms of biological and clinical characteristics. In children, the part of genetic determinism could be higher since the role of environmental factors may be less pronounced than in adults and that a young age at onset is a main feature of genetic cancer predisposition. Recent studies suggested that a number of genetic predisposition remains to be characterized.

Methods. Trio-Based whole exome sequencing of germline DNA from patients (children and adults diagnosed with cancers between 0 and 17 years) and parents will be performed prospectively in a multicentric study including 40 unselected cases of malignant tumor. Participating hospitals will include the CHU of Montpellier, the CHU de Nice and the AP-HP. Tumor analysis will include whole exome analysis and transcriptome for the identification of therapeutic target and contribute to confirm potential link between constitutive mutations and tumor phenotype (such as loss of expression, loss of heterozygosity).

Perspectives. This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.

Condition Hematologic Malignancy, Blood Cancer, Hematologic Cancer, Hematologic Neoplasms, Hereditary Cancer, Familial Cancer, Blood Cancer, Hematologic Cancer, Hematologic Neoplasms, Pediatric Tumor, Solid Tumor, Childhood, Solid Tumor, Childhood, hematological malignancy, hematologic malignancies, hematological tumor, haematological malignancy, hematological malignancies, Solid Tumor, Childhood, Solid Tumor, Childhood, Solid Tumor, Childhood
Treatment Exome sequencing in pediatrics cancers
Clinical Study IdentifierNCT04471961
SponsorUniversity Hospital, Montpellier
Last Modified on25 March 2021


Yes No Not Sure

Inclusion Criteria

The patient has a solid or haematological malignancy, either familial forms or isolated cases diagnosed between the ages of 0 and 17 years
The minor patient and both biological parents are available to participate in the study OR
The adult patient and one or both parents are available to participate in the study
The patient's parents must have given their free and informed consent and signed the consent for the minor's participation in the study
The patient's parent(s) must have given free and informed consent and the patient of legal age must have signed the consent for participation in the study
The patient must be affiliated or beneficiary of a Frrench social security scheme

Exclusion Criteria

The patient's parents are under guardianship or trusteeship or under legal protection Yes No
Failure to obtain written informed consent from parents (for themselves and their minor child) after a period of reflection Yes No
No affiliation to or beneficiary of a French social security scheme (for biological parents and the patient)
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