RASopathies et cancers de l'enfant

Proteins of the RAS/MAPK signalling pathway control several major cellular functions such as proliferation, differentiation and survival. Somatic mutations in RAS genes or in genes coding RAS effectors or regulators are known to play an important role in oncogenesis of sporadic cancers. Germline mutations involving genes of this pathway, and resulting in its deregulation are responsible for several developmental syndromes (Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome…), that are collectively called RASopathies. These diseases share several phenotypic features including congenital heart defect, cardiomyopathy, facial dysmorphism, intellectual disability, skin anomalies and growth retardation. Furthermore, RASopathies are cancer-prone disorders. Hence, children with RASopathies require special preventive strategies and care adapted to this risk.