Hafner, Christian and Stoehr, R. and van Oers, J. M. M. and Zwarthoff, E. C. and Hofstaedter, F. and Landthaler, M. and Hartmann, A. and Vogt, T. (2009) FGFR3 and PIK3CA mutations are involved in the molecular pathogenesis of solar lentigo. BRITISH JOURNAL OF DERMATOLOGY, 160 (3). pp. 546-551. ISSN 0007-0963,
Full text not available from this repository. (Request a copy)Abstract
Solar lentigines (SL) are frequent benign skin lesions appearing on sun-exposed areas especially in elderly people and therefore represent a hallmark of (photo)aged skin. It has been proposed that SL may subsequently evolve into adenoid seborrhoeic keratosis (SK). However, little is known about the genetic basis of SL. In human SK, FGFR3 and PIK3CA mutations have recently been identified. To analyse SL for potential FGFR3 and PIK3CA mutations. We screened 30 SL for FGFR3 mutations using a SNaPshot((R)) multiplex assay. For PIK3CA mutations we used direct sequencing of exon 9 and a SNaPshot((R)) assay for the H1047R hotspot mutation (exon 20). Because psoralen plus ultraviolet A (PUVA) lentigines show the V600E BRAF hotspot mutation, we additionally investigated this mutation in SL by allele-specific polymerase chain reaction. FGFR3 mutations were detected in five of 30 (17%) SL and PIK3CA mutations in two of 28 (7%) SL. None of 28 SL available for BRAF analysis revealed the V600E mutation. Our results suggest that FGFR3 and PIK3CA mutations are involved in the pathogenesis of SL. The occurrence of these mutations in both SL and SK suggests a common genetic basis. Our findings furthermore substantiate previous speculations that UV exposure may be a causative factor for FGFR3 and PIK3CA mutations in human skin.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GROWTH-FACTOR RECEPTOR-3; CANCER-SPECIFIC MUTATIONS; SEBORRHEIC KERATOSES; EPIDERMAL NEVI; ACHONDROPLASIA; BLADDER; CRANIOSYNOSTOSIS; ACTIVATION; FREQUENCY; TUMORS; FGFR3; PIK3CA; seborrhoeic keratosis; senile lentigo; skin; solar lentigo |
| 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: | 21 Sep 2020 10:14 |
| Last Modified: | 21 Sep 2020 10:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/29322 |
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