Case Report: Whole-genome sequencing of urothelial carcinoma in an adult patient with CLOVES syndrome reveals a lack of PIK3CA mutation and a genomic landscape consistent with urothelial carcinoma

Congenital lipomatous overgrowth, vascular epidermal nevi, and skeletal abnormalities (CLOVES) syndrome is a rare genetic disorder caused by somatic activating mutations in the PIK3CA gene that arise during embryonic development. Mutations in the PI3K–AKT–mTOR pathway have been linked to various ben...

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Principais autores:	Lauren McAuley, Orla Fitzpatrick, Nicola Cosgrove, Jad Yacoub, Liam Grogan, Bryan T. Hennessy, Simon J. Furney, Sinead Toomey
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2026-02-01
coleção:	Frontiers in Oncology
Assuntos:	cancer case report CLOVES syndrome PIK3CA PIK3CA-related overgrowth spectrum urothelial carcinoma
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fonc.2026.1704090/full
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