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Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus

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 performe...

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Autores principales: Miranda, Ludmilla Queirós, Fracaroli, Tainá Scalfoni, Fonseca, João Carlos Macedo, Fontenelle, Elisa, Curvo, Raphael Pedro Machado, Porto, Luís Cristóvão, Souto, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876006/
https://www.ncbi.nlm.nih.gov/pubmed/24346875
http://dx.doi.org/10.1590/abd1806-4841.20132055
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author Miranda, Ludmilla Queirós
Fracaroli, Tainá Scalfoni
Fonseca, João Carlos Macedo
Fontenelle, Elisa
Curvo, Raphael Pedro Machado
Porto, Luís Cristóvão
Souto, Roberto
author_facet Miranda, Ludmilla Queirós
Fracaroli, Tainá Scalfoni
Fonseca, João Carlos Macedo
Fontenelle, Elisa
Curvo, Raphael Pedro Machado
Porto, Luís Cristóvão
Souto, Roberto
author_sort Miranda, Ludmilla Queirós
collection PubMed
description 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.
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spelling pubmed-38760062014-01-08 Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus Miranda, Ludmilla Queirós Fracaroli, Tainá Scalfoni Fonseca, João Carlos Macedo Fontenelle, Elisa Curvo, Raphael Pedro Machado Porto, Luís Cristóvão Souto, Roberto An Bras Dermatol Case Report 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. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3876006/ /pubmed/24346875 http://dx.doi.org/10.1590/abd1806-4841.20132055 Text en ©2013 by Anais Brasileiros de Dermatologia http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Miranda, Ludmilla Queirós
Fracaroli, Tainá Scalfoni
Fonseca, João Carlos Macedo
Fontenelle, Elisa
Curvo, Raphael Pedro Machado
Porto, Luís Cristóvão
Souto, Roberto
Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
title Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
title_full Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
title_fullStr Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
title_full_unstemmed Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
title_short Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus
title_sort analysis of mutations in the pik3ca and fgfr3 genes in verrucous epidermal nevus
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876006/
https://www.ncbi.nlm.nih.gov/pubmed/24346875
http://dx.doi.org/10.1590/abd1806-4841.20132055
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