Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
Diana Carli, Nicoletta Resta, Giovanni Battista Ferrero, Martino Ruggieri, Alessandro Mussa
Abstract
Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular anomalies, segmental overgrowth, and increased cancer risk. They are caused by somatic pathogenic variants of the genes belonging the RAt Sarcoma Mitogen-activated protein kinase (RAS/MAPK) pathway causing its hyperactivation. Here, we review the clinical and molecular characteristics of this heterogeneous group of diseases, including the possibilities of molecular diagnosis and new therapeutic perspectives.
Topics & Concepts
Somatic cellMAPK/ERK pathwayCostello syndromeBiologyGeneCancer researchNoonan syndromeProtein kinase AGeneticsKinaseMitogen-activated protein kinaseBioinformaticsMutationKRASGenetic and rare skin diseases.Dermatological and Skeletal DisordersSkin Diseases and Diabetes