fibroblastgrowthfactorreceptor3mutationsinepidermalneviand成纤维细胞生长因子受体3基因突变和表皮痣.pptVIP

Fibroblast Growth Factor receptor 3 Mutations in Epidermal Nevi and Associated Low Grade l Bladder Tumors.?Hernandez S, Toll A et al?JID (2007, July), Volume 127 INTRODUCTION Epidermal Nevi are benign hamartomas in childhood. They present as verrucoid scaly plaques following Blaschko’s lines. Histologically these tumors are similar to seborrheic keratosis (SK). ? FGFR3 mutations are found in SK (39% incidence in a study) (Hafner, 2007) and 86% of adenoid seborrheic keratosis, but the highest incidence is found in Urothelial Carcinomas and are then associated with low grade tumors (good prognosis). ? Epidermal nevus Seborrheic keratosis Acanthosis Nigricans FGFR3 DNA mutations are found in Skeletal dysplasias (exons 7, 10, 15), and the resultant constitutive kinase activity correlates with disease severity. The authors found a case of a 41 year old patient with a congenital widespread non epidermolytic keratinocytic Epidermal Nevi(in addition to 3 other literature reports). Patient had a history of low grade urothelial carcinoma at age 19. Based on three previous reports of associated UC and EN and the histological resemblances with SK, the authors hypothesize that EN might be caused by FGFR3 mutations. To search for FGFR3 mutations in epidermal nevus Goal MATERIALS AND METHODS 25 EN showing on histology a common patterns(papillomatosis, acanthosis, hyperkeratosis) or acrokeratosis verruciformis or SK pattern. 25 patients Microdissection DNA extraction PCR amplification of FGF3R exons 7, 10 and 15 RESULTS No statistical difference in gender, age at diagnosis, location, number of EN, histological subtype. 6 patients: R248C mutation in exon 7 found Exons 10 and 15 normal in all cases The two specimens of normal skin showed FGFR3 wildtype sequences ? FGFR3 was positively staining (although weakly) on immunohistochemistry in the basal cell layer in 2/6 FGFR3 mutated samples and 9/13 FGFR3 wild type samples. This is similar to the weak de