Carried by: MARIH
References:
Clinician(s): Jean DONADIEU (pediatric), Fleur COHEN-AUBART and Julien HAROCHE (adults), Abdellatif TAZI (Coordinator of the Reference Centre)
Biologist(s): Jean-François EMILE
Presentation
The detection of somatic mutations is crucial for the management of histiocytosis, enabling particularly effective targeted therapies to be offered. BRAFV600E mutations are the most common, but several other genes may also be involved.
Following approval by the national histiocytosis RCP and the signing of the relevant consent forms, adult and paediatric patients will be able to benefit from PFGM2025 for the analysis of their frozen samples.
Criteria before considering a discussion in MDM-FMG
- Diagnosis of histiocytosis confirmed by histology in centralised review
- Absence of BRAF p.V600E mutation
- Fixed and frozen histological samples available
- Information and verbal consent from the patient or their guardians
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM Histiocytoses
National
Paris
Jean DONADIEU
Julien HAROCHE
Abdellatif TAZI