Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in PIK...

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Detalles Bibliográficos
Autores principales: Serio, Viola Bianca, Palmieri, Maria, Innamorato, Simona, Loberti, Lorenzo, Fallerini, Chiara, Ariani, Francesca, Antolini, Enrica, Covarelli, Jasmine, Vaghi, Massimo, Frullanti, Elisa, Renieri, Alessandra, Pinto, Anna Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469863/
https://www.ncbi.nlm.nih.gov/pubmed/37662840
http://dx.doi.org/10.3389/fgene.2023.1213283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469863/
https://www.ncbi.nlm.nih.gov/pubmed/37662840
http://dx.doi.org/10.3389/fgene.2023.1213283

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