Identification of Patients/Families With a Paediatric Tumor and One or More Developmental Abnormalities - Characterization of New Tumor Predisposition Syndromes and Study Their Molecular Basis
Overview
- Phase
- Not Applicable
- Intervention
- blood and tumor samples
- Conditions
- Tumor and Abnormalities of the Development
- Sponsor
- Assistance Publique - Hôpitaux de Paris
- Enrollment
- 998
- Locations
- 1
- Primary Endpoint
- Registration of developmental abnormalities in pediatric patients with cancer retrospectively and prospectively for a period of three years on a nationwide scale
- Status
- Completed
- Last Updated
- 2 months ago
Overview
Brief Summary
The overall project goal is to build a database of childhood cancers associated with developmental anomalies; it aims at identifying new syndromes of genetic predisposition and at enabling the further study of their molecular basis.
Detailed Description
Most of the solid cancers arising in the childhood develop from embryonic tissues. The frequent association of paediatric cancers and abnormalities of the development underlines the link between oncogenesis and embryogenesis. However, beside the known malformative syndromes predisposing to one or several types of tumours with a variable penetrance (NF1, Wiedemann-Beckwith, Denys-Drash, Fanconi disease), associations between abnormalities of the development and tumours are badly known and little investigated, and are not listed at present systematically in the registers of child cancers. The cytogenetic exploration of malformative syndromes associated to tumours historically allowed to describe constitutional chromosomal abnormalities of major interest for the understanding of oncogenesis pathways of the most frequent sporadic tumours (del 11p13 and WT1; del 13q14 and Rb1). So, a rare and even exceptional clinical presentation can enrich the knowledge of a common pathology. Our objective is to analyze in a detailed and multidisciplinary way the largest number of possible cases of unusual presentation associating pediatric Tumor And abnormality of Development (TAD). Principle objective * Registration of developmental abnormalities in pediatric patients with cancer retrospectively and prospectively for a period of three years on a nationwide scale Secondary objectives * to record tumoral pathologies in known contexts of cancer predisposition, * to record tumoral pathologies occurring in association with one or more developmental anomaly, these associations might have been already described or not * to identify and locate the biological samples of patients registered in coordination with the national pediatric biobank project * to characterize the molecular basis of the identified associations between developmental abnormalities and tumors. These molecular studies are not straight included in the present project specifically, but should be further conducted on the basis of the clinical data and thanks to the biobank network. * a biannual analysis of aggregated data by a steering committee will be done to identify informative associations that warrant further clinical studies and biological data * Biological studies will be performed in conjunction with local investigators and officials of the local biobank, and in coordination with the operation of BIOCAP
Investigators
Eligibility Criteria
Inclusion Criteria
- •\- Patient who developed before the age of 18 years a solid tumour or a malignant or borderline hemopathy.
- •Presenting one or several abnormality (ies) of the development provided it is not related to the treatment and\\or to the disease among:
- •organ malformation, familial or not
- •neuro-sensory deficit, familial or not
- •delay of psychomotor acquisitions
- •epilepsy (not as a sequelae of the tumour)
- •disorder of growth and\\or weight and\\or of the cranial perimeter
- •congenital, sporadic and\\or familial endocrine or metabolic disease
- •dysmorphy
- •Informed consent of patient and parents to this study OR
Exclusion Criteria
- •absence of malignancy in the index case
- •lack of developmental anomalies in the index case or in a related first degree
- •abnormal development recognized as acquired (traumatic, toxic, infectious, perinatal…)
- •age \> 18 years at diagnosis of the tumor
- •Lack of informed consent of the legal representatives
- •The familial aggregations of cancer without developmental disease are not included in this study.
Arms & Interventions
Patient having a cancer and abnormal development
Patient having developed a cancerous pathology and presenting one or several anomalies of the development.
Intervention: blood and tumor samples
Outcomes
Primary Outcomes
Registration of developmental abnormalities in pediatric patients with cancer retrospectively and prospectively for a period of three years on a nationwide scale
Time Frame: Day 0
Secondary Outcomes
- to record tumoral pathologies occurring in association with one or more developmental anomaly, these associations might have been already described or not(Day 0)
- to record tumoral pathologies in known contexts of cancer predisposition(Day 0)