Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.
Manuel Pérez-PérezAlessandro AgostinoCarmen García de Sola-LlamasMichael RuvoloAngel Vilches-ArenasM Isabel Relimpio-LópezFrancisco Espejo-ArjonaLaura Macías-GarcíaManuel De Miguel-RodríguezAntonio García-EscuderoMiguel A IdoateJuan J Ríos-MartínPublished in: Clinical & experimental ophthalmology (2023)
BAP1 is the most solid biomarker of a poor prognosis in UM and mutations can be detected using NGS. SF3B1 is associated with the spindle cell subtype of UM, which gives it probably a favourable prognostic value. Our study suggests that mutations in DHX9 and PDK1 can have prognostic value. These potential biomarkers are related to the PI3K/AKT/mTOR pathway and makes them candidates for developing new directed therapies.