• Medientyp: E-Artikel
  • Titel: Monosomy 3 Influences Epithelial-Mesenchymal Transition Gene Expression in Uveal Melanoma Patients; Consequences for Liquid Biopsy
  • Beteiligte: Soltysova, Andrea; Sedlackova, Tatiana; Dvorska, Dana; Jasek, Karin; Chokhachi Baradaran, Pooneh; Horvathova Kajabova, Viera; Demkova, Lucia; Buocikova, Verona; Kurucova, Terezia; Lyskova, Darina; Furdova, Alena; Minarik, Gabriel; Babal, Pavel; Dankova, Zuzana; Smolkova, Bozena
  • Erschienen: MDPI AG, 2020
  • Erschienen in: International Journal of Molecular Sciences
  • Sprache: Englisch
  • DOI: 10.3390/ijms21249651
  • ISSN: 1422-0067
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>Despite outstanding advances in diagnosis and the treatment of primary uveal melanoma (UM), nearly 50% of UM patients develop metastases via hematogenous dissemination, driven by the epithelial-mesenchymal transition (EMT). Despite the failure in UM to date, a liquid biopsy may offer a feasible non-invasive approach for monitoring metastatic disease progression and addressing protracted dormancy. To detect circulating tumor cells (CTCs) in UM patients, we evaluated the mRNA expression of EMT-associated transcription factors in CD45-depleted blood fraction, using qRT-PCR. ddPCR was employed to assess UM-specific GNA11, GNAQ, PLCβ4, and CYSLTR2 mutations in plasma DNA. Moreover, microarray analysis was performed on total RNA isolated from tumor tissues to estimate the prognostic value of EMT-associated gene expression. In total, 42 primary UM and 11 metastatic patients were enrolled. All CD45-depleted samples were negative for CTC when compared to the peripheral blood fraction of 60 healthy controls. Tumor-specific mutations were detected in the plasma of 21.4% patients, merely, in 9.4% of primary UM, while 54.5% in metastatic patients. Unsupervised hierarchical clustering of differentially expressed EMT genes showed significant differences between monosomy 3 and disomy 3 tumors. Newly identified genes can serve as non-invasive prognostic biomarkers that can support therapeutic decisions.</jats:p>
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