500 例细针抽吸活检标本基因检测对葡萄膜黑色素瘤的预后评估。

Prognosis of uveal melanoma in 500 cases using genetic testing of fine-needle aspiration biopsy specimens.

机构信息

Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

出版信息

Ophthalmology. 2011 Feb;118(2):396-401. doi: 10.1016/j.ophtha.2010.05.023.

DOI:10.1016/j.ophtha.2010.05.023

PMID:20869116

Abstract

PURPOSE

To determine the relationship between monosomy 3 and incidence of metastasis after genetic testing of uveal melanoma using fine-needle aspiration biopsy (FNAB).

DESIGN

Noncomparative retrospective case series.

PARTICIPANTS

Five hundred patients.

METHODS

Fine-needle aspiration biopsy was performed intraoperatively immediately before plaque radiotherapy. The specimen underwent genetic analysis using DNA amplification and microsatellite assay. Systemic follow-up was obtained regarding melanoma-related metastasis.

MAIN OUTCOME MEASURES

Presence of chromosome 3 monosomy (loss of heterozygosity) and occurrence of melanoma metastasis.

RESULTS

Disomy 3 was found in 241 melanomas (48%), partial monosomy 3 was found in 133 melanomas (27%), and complete monosomy 3 was found in 126 melanomas (25%). The cumulative probability for metastasis by 3 years was 2.6% for disomy 3, 5.3% for partial monosomy 3 (equivocal monosomy 3), and 24.0% for complete monosomy 3. At 3 years, for tumors with disomy 3, the cumulative probability of metastasis was 0% for small (0-3 mm thickness), 1.4% for medium (3.1-8 mm thickness), and 23.1% for large (>8 mm thickness) melanomas. At 3 years, for tumors with partial monosomy 3, the cumulative probability of metastasis was 4.5% for small, 6.9% for medium, and [insufficient numbers] for large melanomas. At 3 years, for tumors with complete monosomy 3, the cumulative probability of metastasis was 0% for small, 24.4% for medium, and 57.5% for large melanomas. The most important factors predictive of partial or complete monosomy 3 included increasing tumor thickness (P = 0.001) and increasing distance to optic disc (P = 0.002).

CONCLUSIONS

According to FNAB results, patients with uveal melanoma demonstrating complete monosomy 3 have substantially poorer prognosis at 3 years than those with partial monosomy 3 or disomy 3. Patients with partial monosomy 3 do not significantly differ in outcome from those with disomy 3.

摘要

目的

通过对行细针抽吸活检术（FNAB）的葡萄膜黑色素瘤进行遗传检测，确定单体 3 与转移发生率之间的关系。

设计

非对照回顾性病例系列。

参与者

500 例患者。

方法

在进行瘤内放射治疗前的术中进行细针抽吸活检。采用 DNA 扩增和微卫星分析对标本进行遗传分析。对与黑色素瘤相关的转移进行系统随访。

主要观察指标

存在染色体 3 单体（杂合性丢失）和发生黑色素瘤转移。

结果

241 例黑色素瘤（48%）存在三体，133 例（27%）存在部分单体 3，126 例（25%）存在完全单体 3。三体患者 3 年累积转移率为 2.6%，部分单体 3 为 5.3%（意义不明的单体 3），完全单体 3 为 24.0%。3 年时，三体患者小肿瘤（厚度 0-3mm）的累积转移率为 0%，中肿瘤（厚度 3.1-8mm）为 1.4%，大肿瘤（>8mm）为 23.1%。3 年时，部分单体 3 患者小肿瘤的累积转移率为 4.5%，中肿瘤为 6.9%，大肿瘤为[数量不足]。3 年时，完全单体 3 患者小肿瘤的累积转移率为 0%，中肿瘤为 24.4%，大肿瘤为 57.5%。预测部分或完全单体 3 的最重要因素包括肿瘤厚度增加（P=0.001）和距视盘距离增加（P=0.002）。