Carried by: SFCE ("French Society for the Fight Against Cancer and Leukaemia in Children and Adolescents")
References:
Clinician(s): Marion STRULLU, Paul SAULTIER
Biologist(s): Yoann VIAL
Presentation
Approximately 5–10% of paediatric haematological malignancies occur in the context of a predisposition syndrome, which is often difficult to diagnose due to low penetrance and subclinical forms in relatives. High-Throughput Sequencing makes it possible to identify variants not detected by targeted panels (deep intronic, structural abnormalities, regulatory regions) and improve the management of patients and families.
Criteria before considering a discussion in MDM-FMG
Hematological malignancies in children and adolescents associated with at least one of the following:
- First- or second-degree relative with a malignant blood disease or haematological abnormality (cytopenia, bone marrow failure, immune deficiency)
- Malformation syndrome not suggestive of a known genetic syndrome
- Unusual toxicity to treatments
AND inconclusive results after preliminary analysis of a targeted NGS panel for genes predisposing to malignant blood disorders (somatic or constitutional analysis)
AND possibility of trio analysis
Genome Sequencing in diagnostic strategy
Cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact