基于癌症基因组图谱分类的1585例葡萄膜黑色素瘤无转移生存结果
Metastasis-free survival outcomes of uveal melanoma based on The Cancer Genome Atlas classification in 1585 cases.
作者信息
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
机构信息
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA.
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA.
出版信息
Can J Ophthalmol. 2025 Jun 19. doi: 10.1016/j.jcjo.2025.05.017.
BACKGROUND
Genetic testing for uveal melanoma and tumour size is important in prognostication.
METHODS
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.
RESULTS
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).
CONCLUSIONS
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.
背景
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。
方法
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。
结果
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）。
结论
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。
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