Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors.
Epidermal nevi (EN) are benign lesions presenting at birth or in childhood. Based on the occurrence of fibroblast growth factor receptor 3 (FGFR3) mutations in seborrheic keratosis and urothelial carcinomas (UC), and the identification of two young patients with EN and UC, we hypothesized that mutations might occur in EN. The R248C mutation was found in 6/23 (26.1%) EN but it was absent from unaffected skin. In two patients with EN and UC, both lesions were FGFR3 wild type. Our findings indicate that: (1) FGFR3 mutations occur in mosaicism and can cause EN and (2) other genes are involved in EN.
Hernández
Silvia
S
Department de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain.
Toll
Agustí
A
Baselga
Eulàlia
E
Ribé
Adriana
A
Azua-Romeo
Javier
J
Pujol
Ramon M
RM
Real
Francisco X
FX
D000328:Adult; D004273:DNA, Neoplasm / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D017492:Keratosis, Seborrheic / Q000235:genetics / Q000378:metabolism; D008297:Male; D009030:Mosaicism; D009506:Nevus / Q000235:genetics* / Q000378:metabolism; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000378:metabolism; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism; D001749:Urinary Bladder Neoplasms / Q000235:genetics* / Q000378:metabolism; D019459:Urothelium / Q000378:metabolism
D004273:DNA, Neoplasm; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3