Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature

BACKGROUND: PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous features, hamartomatous tumors, and cancers. Mosaicism has b...

Descripción completa

Detalles Bibliográficos
Autores principales: Cavaillé, Mathias, Crampon, Delphine, Achim, Viorel, Bubien, Virginie, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Gay-Bellile, Mathilde, Lepage, Mathis, Ouedraogo, Zangbéwendé Guy, Jones, Natalie, Bidet, Yannick, Sevenet, Nicolas, Bignon, Yves-Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339495/
https://www.ncbi.nlm.nih.gov/pubmed/37442961
http://dx.doi.org/10.1186/s12920-023-01600-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339495/
https://www.ncbi.nlm.nih.gov/pubmed/37442961
http://dx.doi.org/10.1186/s12920-023-01600-0

Ejemplares similares