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Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus* * Work conducted at Pedro Ernesto University Hospital - University of the State of Rio de Janeiro (Hospital Universitario Pedro Hernesto - Universidade do Estado do Rio de Janeiro / HUPE-UERJ) - Rio de Janeiro (RJ) - Brazil.

Análise de mutações nos genes PIK3CA e FGFR3 em caso de nevo epidérmico verrucoso

Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.

Hamartoma; Mutation; Nevus


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