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Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.

Yuki SasakiKosuke IshikawaKanako C HatanakaYumiko OyamadaYusuke SakuharaTadashi ShimizuTatsuro SaitoNaoki MuraoTomohiro OnoderaTakahiro MiuraTaku MaedaEmi FunayamaYutaka HatanakaYuhei YamamotoSatoru Sasaki
Published in: Orphanet journal of rare diseases (2023)
The PI3K/AKT/mTOR pathway in mesenchymal tissues was activated in patients with KTS. Amplicon-based targeted NGS could identify low-level mosaicism from low-input DNA extracted from FFPE tissues, potentially providing a diagnostic option for personalized medicine with inhibitors of the PI3K/AKT/mTOR signaling pathway.
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