Publication date: Mar 01, 2019
To clinically use the UCSF500, a pancancer, next-generation sequencing assay in uveal melanoma (UM) and to correlate results with gene expression profiling (GEP) and predictive factors for metastasis.
Cohort study. Tumor samples of adult UM patients were analyzed with the UCSF500 and GEP. Main outcomes were copy number changes in chromosomes 1, 3, 6, and 8 and mutations in GNAQ, GNA11, SF3B1, EIF1AX, BAP1, SRSF2, U2AF1, and PLCB4. Chromosome 3 loss (a metastasis predictor) was tested for correlation with GEP class, tumor characteristics (largest basal diameter, thickness, ciliary body involvement, and extraocular extension), and histology (presence of epithelioid cells, closed loops, and mitotic count).
The 62 patients had a mean age of 59 years (range, 24-89 years). Chromosome 3 loss was detected in 30 patients and was associated with larger basal tumor diameter (Wilcoxon rank sum test, P = 0.015), greater thickness (Wilcoxon rank sum test, P = 0.016) and tumor, node, metastasis stage (Fisher test, P = 0.006), epithelioid cytology (Fisher test, P
UCSF500 detects chromosomal copy number changes and missense mutations that correlate strongly with metastasis predictors, including GEP.
Next-generation sequencing of UM should enhance survival prognostication.
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Afshar, A.R., Damato, B.E., Stewart, J.M., Zablotska, L.B., Roy, R., Olshen, A.B., Joseph, N.M., and Bastian, B.C. Next-Generation Sequencing of Uveal Melanoma for Detection of Genetic Alterations Predicting Metastasis. 22483. 2019 Transl Vis Sci Technol (8):2.