Présentation
Genetic predispositions to acute leukaemia (AL) affect approximately 10% of adults with AL, but the genetic origin is only identified in half of cases using current strategies.
WGS/WES is a comprehensive study of the genome and the identification of rare or complex variants for several purposes:
- Adapt treatment to predisposition (toxicity).
- Adapt management to the prognosis conferred by predisposition.
- Select an intra-familial haematopoietic stem cell donor.
- Enable genetic counselling.
Criteria before considering a discussion in MDM-FMG
Acute leukaemia (AML or ALL) in adults with at least one first-degree relative or two second-degree relatives affected by acute leukaemia (which may include a paediatric case)
OR three individuals from the same family (including at least one case of acute leukaemia in adults) with blood disorders belonging to the spectrum of predisposition (myeloid blood disorders [SMD, SMP], aplasia, chronic cytopenia)
AND availability of samples from at least two relatives: blood sample or extracted DNA (sorted cells, skin, etc.)
Genome Sequencing in diagnostic strategy
MDM cartography
National MDM focusing on constitutional haematological genetics
SEBERT Marie
DUPLOYEZ Nicolas
DUMAS Pierre-Yves
pierre-yves.dumas@chu-bordeaux.fr
CLAPPIER Emmanuelle
LARCHER Lise
FLANDRIN Pascale
pascale.flandrin-gresta@chu-st-etienne.fr
ALARY Anne-Sophie
VILLY Marie-Charlotte