关键词: Gene expression profiling Genetics Iris melanoma Prognosis Survival outcomes Uveal melanoma

Mesh : Humans In Situ Hybridization, Fluorescence Uveal Neoplasms / diagnosis genetics Iris Neoplasms Melanoma / genetics pathology Prognosis Iris Retrospective Studies

来  源:   DOI:10.1016/j.survophthal.2023.05.006

Abstract:
Uveal melanoma prognostication studies have mainly included posterior uveal melanomas located in the ciliary body and choroid, often excluding iris melanoma. In this study, we report prognostic status and survival outcomes in a series of 35 patients with biopsy-proven iris melanoma. Fluorescence in situ hybridization was performed in 10 (29%) cases and 2 (5%) underwent multiplex ligation-dependent probe amplification. In total, 9 cases demonstrated disomy 3, 2 cases with monosomy 3 (fluorescence in situ hybridization), and 1 had a technical failure. On gene expression profile testing, 20 of the 23 cases (90%) were gene expression profile class 1A, and the remaining 3 (10%) were class 1B. No patient had a Class 2 status. The median follow-up period was 49 months (mean 59, range 2-156 months). No metastasis was reported during follow-up, and metastasis-free survival was 100%. A review of the published literature revealed 47 cases with high-risk status on molecular prediction, of which only 6 (13%) developed metastasis. Ciliary body involvement was reported in 5 cases and was unknown in 2 cases. We conclude that molecular prognostication of iris melanoma demonstrates low-risk prognostic status in the majority of cases irrespective of the technique used. Even those with high-risk status do not develop metastasis unless the tumor involves the ciliary body.
摘要:
葡萄膜黑色素瘤预后研究主要包括位于睫状体和脉络膜的葡萄膜后黑色素瘤,经常排除虹膜黑色素瘤。在这项研究中,我们报告了35例经活检证实的虹膜黑色素瘤患者的预后状况和生存结果。10例(29%)和2例(5%)进行了MLPA的荧光原位杂交(FISH)。总的来说,9例表现为二体3,2例表现为单体3(FISH),1有技术故障。在基因表达谱(GEP)测试中,23例中的20例(90%)为GEP1A级,其余3人(10%)为1B级。没有患者具有2级状态。中位随访期为49个月(平均59个,范围2-156个月)。随访期间无转移报告,无转移生存率为100%。对已发表的文献的回顾显示,47例具有分子预测的高风险状态,其中只有6例(13%)发生了转移。报告5例睫状体受累,2例不详。我们得出的结论是,无论使用何种技术,虹膜黑色素瘤的分子预后在大多数情况下都显示出低风险的预后状态。即使那些具有高风险状态的人也不会发生转移,除非肿瘤涉及睫状体。
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