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

• Main Authors: Mathias Cavaillé (Author), Delphine Crampon (Author), Viorel Achim (Author), Virginie Bubien (Author), Nancy Uhrhammer (Author), Maud Privat (Author), Flora Ponelle-Chachuat (Author), Mathilde Gay-Bellile (Author), Mathis Lepage (Author), Zangbéwendé Guy Ouedraogo (Author), Natalie Jones (Author), Yannick Bidet (Author), Nicolas Sevenet (Author), Yves-Jean Bignon (Author)
• Format: Book
• Published: BMC, 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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. Mosaici...