Purpose

Uveal melanoma (UM) is a rare disease and the most common primary intraocular malignancy in adults, with a high risk of metastases. Reliable prognostication systems are based on anatomic features, as in the tumor–node–metastasis staging of the American Joint Committee on Cancer (AJCC) system, or on genetic information, as in The Cancer Genome Atlas (TCGA) system. Prior evidence suggests that combining both systems may be beneficial. We evaluated the benefit of combining the TCGA and AJCC systems in a large cohort of patients.

Design

Retrospective case series of patients with UM.

Participants

Nine hundred seventy-nine patients with a choroidal or ciliary body melanoma treated at the Wills Eye Hospital between 1998 and 2020, 94% of whom received eye-sparing treatment.

Methods

Tumors were classified into 4 TCGA groups based on chromosome copy number: A (disomy 3, normal 8q), B (disomy 3, any 8q gain), C (monosomy 3, 1 extra copy of 8q), and D (monosomy 3, multiple 8q gain). The eighth edition of the AJCC staging manual was used for AJCC staging. Cox regression and the log-rank test were used for survival analysis.

Main Outcome Measure

Metastasis-free survival.

Results

Combining information of the 2 systems improved prognostication in intermediate groups: in TCGA group C, we saw an increased rate of metastasis in AJCC stage III (28%) compared with stage II (8.9%); the same was seen in AJCC stage II, going from TCGA group C (8.9%) to group D (46%), and in AJCC stage III, going from group C (28%) to group D (49%). In patients with AJCC stage II or III disease, loss of chromosome 3 and gain of 8q (TCGA groups C and D) significantly worsened the prognosis, with multiple 8q gain (TCGA group D) having a greater impact.

Conclusions

Combining information from AJCC stages and TCGA groups yields a better predictive power even in this set of relatively small tumors. We propose that physicians take both systems into account whenever possible, especially in moderate-risk groups.

中文翻译：

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将癌症基因组图谱染色体分类添加到美国癌症系统联合委员会可为葡萄膜黑色素瘤提供更准确的预后

目的

葡萄膜黑色素瘤（UM）是一种罕见的疾病，是成人最常见的原发性眼内恶性肿瘤，具有很高的转移风险。可靠的预后系统基于解剖特征，如美国癌症联合委员会 (AJCC) 系统的肿瘤-淋巴结-转移分期，或基于遗传信息，如癌症基因组图谱 (TCGA) 系统。先前的证据表明，结合这两个系统可能是有益的。我们在一大群患者中评估了 TCGA 和 AJCC 系统相结合的益处。

设计

UM患者的回顾性病例系列。

参与者

1998 年至 2020 年间，979 名脉络膜或睫状体黑色素瘤患者在威尔斯眼科医院接受治疗，其中 94% 接受了保留眼睛的治疗。

方法

根据染色体拷贝数将肿瘤分为 4 个 TCGA 组：A（二体 3，正常 8q），B（二体 3，任何 8q 增益），C（单体 3，1 个额外的 8q 拷贝）和 D（单体 3，多个 8q 增益）。AJCC 分期手册第八版用于 AJCC 分期。Cox回归和对数秩检验用于生存分析。

主要成果衡量标准

无转移生存。

结果

结合 2 个系统的信息改善了中间组的预后：在 TCGA C 组中，我们发现 AJCC III 期（28%）的转移率与 II 期（8.9%）相比有所增加；在 AJCC II 期，从 TCGA C 组 (8.9%) 到 D 组 (46%) 和 AJCC III 期，从 C 组 (28%) 到 D 组 (49%) 也是如此。在 AJCC II 期或 III 期疾病患者中，3 号染色体缺失和 8q 增加（TCGA C 组和 D 组）显着恶化预后，其中多个 8q 增加（TCGA D 组）影响更大。

结论

即使在这组相对较小的肿瘤中，结合来自 AJCC 阶段和 TCGA 组的信息也会产生更好的预测能力。我们建议医生尽可能考虑这两个系统，尤其是在中度风险人群中。