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• W1535140231 abstract "AACR Annual Meeting-- Apr 14-18, 2007; Los Angeles, CA2079 Aims: Epidermal nevi (EN) of the non-epidermolytic type are common congenital skin lesions with an incidence of about 1 in 1,000 people, but their genetic basis remains elusive. Germline mutations of FGFR3 cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia. Some of these patients also show acanthosis nigricans of the skin. In a mouse model, the expression of a mutant FGFR3 (249C) in the basal epidermis using the keratin 5 promoter caused verrucous skin tumors similar to seborrhoic keratoses (SK) and FGFR3 mutations were detected in 39% of SK in humans. Since EN and acanthosis nigricans share some clinical and histological features, we analyzed the presence of activating FGFR3 mutations in non-epidermolytic EN and in large series of SK of different histological subtypes.Methods: We used a SNaPshot multiplex assay (van Oers et al., Clin Cancer Res 11:7743-7748, 2005) to screen for 11 previously described activating FGFR3 point mutations in thirty-three patients with 39 clinically and histologically confirmed EN of the non-epidermolytic type. In addition, 26 adenoid SK were screened. To evaluate the importance of FGFR3 mutations in individuals with large numbers of SK, 78 SK of four patients (19, 19, 21 and19 SK/patient, respectively) were also investigated for FGFR3 mutations.Results: Activating FGFR3 mutations were identified, almost exclusively at codon 248 (R248C), in 11 of 33 (33%) patients with EN. The mutations were not present in adjacent normal skin, which was available in 4 patients. SK of the adenoid subtype showed with 81% (21/26 lesions) the highest frequency of FGFR3 mutations detected in any lesion so far. FGFR3 mutations were detected in 46 of 78 multifocal SK (59 %). However, the mutation frequency varied considerably in the patients, ranging from 26 % to 89 %. Four SK revealed a double and one a triple FGFR3 mutation. The differrent FGFR3 mutations were rather stochastically distributed among the patients, who showed at least four distinct mutated loci. Interestingly, all mutations detected in this series of human EN or SK were linked to a severe skeletal dysplasia phenotype in germline (thanatophoric dysplasia and SADDAN syndrome).Conclusions: Our results provide evidence that a significant proportion of epidermal nevi is caused by a mosaicism of activating FGFR3 mutations in the human epidermis, resulting from a post-zygotic mutation in early embryonic development. The R248C mutation appears to be a hotspot for FGFR3 mutations in epidermal nevi.FGFR3 mutations are also common in multiple SK with a varying mutation frequency between individuals but without specific intraindividual mutational hotspots. The mechanism leading to the high frequency of FGFR3 mutations in human SK and EN as well as details of FGFR3 signaling in mutant cells remains elusive." @default.
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• W1535140231 date "2007-05-01" @default.
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• W1535140231 title "FGFR3 mutations in benign skin tumors" @default.
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