Monosomy 3 Influences Epithelial-Mesenchymal Transition Gene Expression in Uveal Melanoma Patients; Consequences for Liquid Biopsy.

摘要: Despite outstanding advances in diagnosis and the treatment of primary uveal melanoma (UM), nearly 50% UM patients develop metastases via hematogenous dissemination, driven by epithelial-mesenchymal transition (EMT). failure to date, a liquid biopsy may offer feasible non-invasive approach for monitoring metastatic disease progression addressing protracted dormancy. To detect circulating tumor cells (CTCs) patients, we evaluated mRNA expression EMT-associated transcription factors CD45-depleted blood fraction, using qRT-PCR. ddPCR was employed assess UM-specific GNA11, GNAQ, PLCβ4, CYSLTR2 mutations plasma DNA. Moreover, microarray analysis performed on total RNA isolated from tissues estimate prognostic value gene expression. In total, 42 11 were enrolled. All samples negative CTC when compared peripheral fraction 60 healthy controls. Tumor-specific detected 21.4% merely, 9.4% UM, while 54.5% patients. Unsupervised hierarchical clustering differentially expressed EMT genes showed significant differences between monosomy 3 disomy tumors. Newly identified can serve as biomarkers that support therapeutic decisions.