Shields Carol L, Nguyen Henry, Mina Shady, Kozlowski Gabrielle E, Khan Ayra, Woods Madison M, Bansal Rolika, Sener Hidayet, Ganguly Arupa, Lally Sara E, Shields Jerry A
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA.
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA.
Can J Ophthalmol. 2025 Jun 19. doi: 10.1016/j.jcjo.2025.05.017.
Genetic testing for uveal melanoma and tumour size is important in prognostication.
A review of 1 585 patients with uveal melanoma who had cytogenetic testing and classification, according to The Cancer Genome Atlas (TCGA), was performed. Kaplan-Meier (KM) metastasis-free survival at 1-, 3-, 5-, and 10-years were explored.
The findings revealed TCGA Group A (n = 781; 49%), Group B (n = 215; 14%), Group C (n = 329; 21%), or Group D (n = 260; 16%). The median patient age at diagnosis was 60 years, sex was male in 51%, and race was White in 95%. A comparison (TCGA Group A vs Group B vs Group C vs Group D) revealed a difference in median patient age at tumour diagnosis (59 vs 59 vs 63 vs 65 years; p < 0.01), and initial visual acuity (20/20-20/50: 80% vs 68% vs 69% vs 64%; p < 0.01). The median tumour thickness was 4 mm, and the median diameter was 12 mm. A comparison (TCGA Group A vs Group B vs Group C vs Group D) revealed differences in median tumour thickness (3 vs 5 vs 6 vs 7 mm; p < 0.01), tumour diameter (10 vs 13 vs 13 vs 16 mm; p < 0.01), distance to foveola (3 vs 3 vs 4 vs 5 mm; p < 0.01), and distance to optic disc (3 vs 4 vs 5 vs 4 mm; p < 0.01). The KM metastasis-free survival estimates (TCGA Group A vs Group B vs Group C vs Group D) revealed differences at 1 year, 3 years, 5 years, and 10 years (p < 0.01) for any metastasis and specific survival rates at 5 years (96% vs 86% vs 62% vs 37%; p < 0.01), and 10 years (93% vs 78% vs 50% vs not available; p < 0.01) significantly decreased from Group A to Group D. By multivariate analysis, the hazard ratio for metastasis-free survival revealed differences in Groups B vs A (3.67), Groups C vs B (5.73), and Groups D vs C (3.20) (p < 0.01), as well as differences per tumour thickness (1.06) and diameter (1.13) (p < 0.01).
Genetic prognostication for metastatic risk from uveal melanoma using TCGA in this large cohort revealed that increasing TCGA category reduced the rate for metastasis-free survival.
葡萄膜黑色素瘤的基因检测和肿瘤大小对预后评估很重要。
对1585例接受了细胞遗传学检测并根据癌症基因组图谱（TCGA）进行分类的葡萄膜黑色素瘤患者进行了回顾性研究。探讨了1年、3年、5年和10年的无转移生存的Kaplan-Meier（KM）曲线。
研究结果显示患者分为TCGA A组（n = 781；49%）、B组（n = 215；14%）、C组（n = 329；21%）或D组（n = 260；16%）。诊断时患者的中位年龄为60岁，51%为男性，95%为白人。比较（TCGA A组 vs B组 vs C组 vs D组）发现肿瘤诊断时患者的中位年龄存在差异（59岁 vs 59岁 vs 63岁 vs 65岁；p < 0.01），以及初始视力（20/20 - 20/50：80% vs 68% vs 69% vs 64%；p < 0.01）。肿瘤中位厚度为4mm，中位直径为12mm。比较（TCGA A组 vs B组 vs C组 vs D组）发现肿瘤中位厚度（3mm vs 5mm vs 6mm vs 7mm；p < 0.01）、肿瘤直径（10mm vs 13mm vs 13mm vs 16mm；p < 0.01）、距黄斑中心凹距离（3mm vs 3mm vs 4mm vs 5mm；p < 0.01）和距视盘距离（3mm vs 4mm vs 5mm vs 4mm；p < 0.01）存在差异。KM无转移生存估计值（TCGA A组 vs B组 vs C组 vs D组）显示1年、3年、5年和10年时任何转移的发生率存在差异（p < 0.01），5年时的特定生存率（96% vs 86% vs 62% vs 37%；p < 0.01）以及10年时的特定生存率（93% vs 78% vs 50% vs 不可用；p < 0.01）从A组到D组显著降低。通过多因素分析，无转移生存的风险比显示B组与A组（3.67）、C组与B组（5.73）以及D组与C组（3.20）存在差异（p < 0.01），以及每个肿瘤厚度（1.06）和直径（1.13）存在差异（p < 0.01）。
在这个大型队列中，使用TCGA对葡萄膜黑色素瘤转移风险进行基因预后评估显示，TCGA分类增加会降低无转移生存率。
