Mosaicism for oncogenic G12D <i>KRAS</i> mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

Abstract

This report shows for the first time that a KRAS mutation in epiderma causes EN. Observation of the same G12D KRAS mutation in two distinct regions of the body strongly suggests a somatic mosaicism. Finally, this report highlights the potentially underestimated importance of mosaic oncogene mutations in childhood cancers.