Document Detail

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.
MedLine Citation:
PMID:  22499344     Owner:  NLM     Status:  In-Data-Review    
Background Activating RAS mutations in the germline cause rare developmental disorders such as Costello syndrome. Somatic RAS mutations are found in approximately 30% of human cancers. Keratinocytic epidermal nevi (KEN) represent benign congenital skin lesions arranged along Blaschko's lines. A subgroup of KEN is caused by hotspot oncogenic FGFR3 and PIK3CA mutations in mosaicism, but the majority lack these mutations. Methods This study screened 72 KEN for activating mutations in RAS genes and other oncogenes. Results Activating RAS mutations were identified in 28/72 (39%) of KEN. HRAS was the most commonly affected oncogene (86%), with the HRAS p.G13R substitution representing a new hotspot mutation. Conclusion These results indicate that activating RAS somatic mutations leading to mosaicism result in benign KEN of the skin. Given the prevalence of KEN, mosaic HRAS mutations appear to be more common in patients than germline ones. These findings identify KEN as a mosaic RASopathy and lend further support to the notion that genetic mosaicism is an important contributor to disease.
Christian Hafner; Agusti Toll; Susanne Gantner; Andreas Mauerer; Irene Lurkin; Francesco Acquadro; Alejandro Fernández-Casado; Ellen C Zwarthoff; Wolfgang Dietmaier; Eulalia Baselga; Elisabet Parera; Asunción Vicente; Ariel Casanova; Juan Cigudosa; Thomas Mentzel; Ramon M Pujol; Michael Landthaler; Francisco X Real
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  49     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-04-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  249-53     Citation Subset:  IM    
Department of Dermatology, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany;
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