Tumor and Development (TED) (TED)

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

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.

Study Overview

• Status: Completed
• Conditions: Tumor and Abnormalities of the Development
• Intervention / Treatment: Other: blood and tumor samples

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

• Study Type: Observational
• Enrollment (Actual): 998

Contacts and Locations

Study Locations

• France
  • Paris, France, 75015
    • Hopital Necker Enfants Malades

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patient having developed a cancerous pathology and presenting one or several anomalies of the development.

Description

Inclusion Criteria :

- Patient who developed before the age of 18 years a solid tumour or a malignant or borderline hemopathy.

AND

• 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
• tumour predisposition syndrome or developmental abnormality in a familial context, the molecular basis might have been already identified or not

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patient having a cancer and abnormal development; Patient having developed a cancerous pathology and presenting one or several anomalies of the development.	Other: blood and tumor samples; all tumor pathology associated with anomaly of development

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Registration of developmental abnormalities in pediatric patients with cancer retrospectively and prospectively for a period of three years on a nationwide scale	Day 0

Secondary Outcome Measures

Outcome Measure	Time Frame
to record tumoral pathologies in known contexts of cancer predisposition	Day 0
to record tumoral pathologies occurring in association with one or more developmental anomaly, these associations might have been already described or not	Day 0

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: URC-CIC Paris Descartes Necker Cochin
• Investigators: Study Director: Sabine SARNACKI, MD, PhD, Groupement Hospitalier Necker 149 rue de Sèvres 75015 PARIS France

Publications and helpful links

General Publications

• Semeraro M, Fouquet C, Vial Y, Amiel J, Galmiche L, Cretolle C, Blanc T, Jolaine V, Garcelon N, Entz-Werle N, Pellier I, Verite C, Sophie Taque, Coulomb A, Petit A, Corradini N, Bouazza N, Lacour B, Clavel J, Brugieres L, Bourdeaut F, Sarnacki S; members of the TED Consortium. Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study. J Pediatr. 2023 Aug;259:113451. doi: 10.1016/j.jpeds.2023.113451. Epub 2023 May 9.

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2013
• Primary Completion (Actual): December 1, 2022
• Study Completion (Actual): December 1, 2022

Study Registration Dates

• First Submitted: August 2, 2013
• First Submitted That Met QC Criteria: August 2, 2013
• First Posted (Estimated): August 5, 2013

Study Record Updates

• Last Update Posted (Actual): February 13, 2026
• Last Update Submitted That Met QC Criteria: February 11, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Pediatric patients, tumor, developmental abnormalities
• Additional Relevant MeSH Terms: Neoplasms; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: NI11049; AOM 11319