Cerebral arteriovenous malformations (CAVMs) are abnormal vessels located on the surface of the brain or within the cerebral parenchyma, causing abnormal communication between the arterial and venous networks, without the interposition of the capillary bed. The main risk associated with these malformations is rupture, which causes intracranial bleeding and can lead to serious sequelae or even death. CAVMs (except those of clearly identified genetic origin \[\< 5%\], such as mutations associated with Rendu-Osler disease) have long been considered to be of non-genetic origin.
However, somatic genetic mutations that activate the RAS/RAF/MEK/ERK (MAPK) signalling pathway have recently been identified in surgical specimens of cAVMs. Furthermore, targeted inhibition of this pathway is effective in treating these malformations in animals and appears to be effective in extracranial arteriovenous malformations, particularly superficial ones.
Age ≥ 18 years
Treated for cAVM
Indication for embolisation treatment decided upon during a multidisciplinary team meeting (MDT)
Venous embolisation, with or without arterial embolisation
Extra-cerebral arteriovenous malformations
Under legal protection measures (guardianship/curatorship, etc.)
Pregnancy
Not eligible for intravenous treatment
The population consists of patients aged 18 years or older with cAVMs, for whom treatment by venous embolisation was recommended during a multidisciplinary consultation meeting.
Cohort
Prospective
Search for activating somatic genetic mutations
Other interventionThis research aims to evaluate the genetic mutations identified by liquid biopsies on the drainage vein of AVMs, and the prevalence of each mutation. These liquid biopsies will be performed during the embolisation procedure by sampling the drainage vein of the malformation and peripheral venous blood (no additional procedures compared to standard care).
Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs.
determination of each mutation identified in the drainage vein of AVMs,
Assessment of the prevalence of each mutation identified by liquid biopsies on the drainage vein of AVMs
Evaluation of the prevalence of each mutation identified in the drainage vein of AVMs, with calculation of the exact 95% confidence interval.
Evaluation of the imaging characteristics of cAVMs for each of the mutations identified.
Imaging characterisation of cAVMs for each of the mutations identified
Evaluate genetic mutations identified by liquid biopsies on the peripheral vein of AVMs.
determination of each mutation identified in the peripheral vein of AVMs
Assessment of the prevalence of each mutation identified by liquid biopsies on the peripheral vein of AVMs
Evaluation of the prevalence of each mutation identified in the peripheral vein of AVMs, with calculation of the exact 95% confidence interval.
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