Hafner, Christian and Toll, Agusti and Gantner, Susanne and Mauerer, Andreas and Lurkin, Irene and Acquadro, Francesco and Fernandez-Casado, Alejandro and Zwarthoff, Ellen C. and Dietmaier, Wolfgang and Baselga, Eulalia and Parera, Elisabet and Vicente, Asuncion and Casanova, Ariel and Cigudosa, Juan and Mentzel, Thomas and Pujol, Ramon M. and Landthaler, Michael and Real, Francisco X. (2012) Keratinocytic epidermal nevi are associated with mosaic RAS mutations. JOURNAL OF MEDICAL GENETICS, 49 (4). pp. 249-253. ISSN 0022-2593,
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | COSTELLO-SYNDROME; GERMLINE MUTATIONS; CANCER; KRAS; CARCINOMA; BLADDER; NOONAN; FGFR3; BRAF; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Dermatologie und Venerologie Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 May 2020 11:46 |
| Last Modified: | 15 May 2020 11:46 |
| URI: | https://pred.uni-regensburg.de/id/eprint/18975 |
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