Article
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma.
Journal of medical genetics - 1 Dec 2010
Bourdeaut Franck, Hérault Aurélie, Gentien David, Pierron Gaëlle, Ballet Stelly, Reynaud Stéphanie, Paris Régine, Schleiermacher Gudrun, Baumann Clarisse, Philippe-Chomette Pascale, Gauthier-Villars Marion, Peuchmaur Michel, Radvanyi François, Delattre Olivier
Abstract excerpt
BACKGROUND: Epidermal nevus (EN) is a congenital disorder characterised by hyperpigmented epidermal thickening following a Blaschko's line. It is due to somatic mutations in either FGFR3 or PIK3CA in half of the cases, and remains of unknown genetic origin in the other half. EN is also seen as part of complex developmental disorders or in association with bladder carcinomas, also related to FGFR3 and PIK3CA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.