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脉络膜黑色素瘤相关的视网膜色素沉着。

Tumor-Associated Retinal Pigmentation in Choroidal Melanoma.

机构信息

Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, and UK & Liverpool Ocular Oncology Centre, Liverpool University Hospitals Trust, Liverpool, United Kingdom.

Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, United Kingdom; Department of Cellular Pathology, Liverpool Clinical Laboratories, Liverpool University Hospitals NHS Foundation Trust, Liverpool, United Kingdom.

出版信息

Ophthalmology. 2023 Oct;130(10):1046-1052. doi: 10.1016/j.ophtha.2023.05.009. Epub 2023 May 13.

Abstract

PURPOSE

To report a previously unrecognized choroidal melanoma clinical feature termed tumor-associated retinal pigmentation (TARP) and determine any correlation with tumor biology.

DESIGN

Imaging and histologic analysis of a retrospective cohort of patients.

PARTICIPANTS

Patients with choroidal melanoma identified as having TARP on funduscopy at the Liverpool Ocular Oncology Centre (LOOC), United Kingdom, from January 2020 through January 2023.

METHODS

Clinical and imaging characteristics of patients diagnosed with choroidal melanoma and exhibiting TARP on fundoscopy were documented. Details of these choroidal melanomas were collated and correlated with histopathology and molecular genetic reports. The chromosome 3 status of each tumor was assessed. In enucleated samples, immunostaining was undertaken to determine the nature of the TARP using specific markers (CD68 and MelanA).

MAIN OUTCOME MEASURES

Features of TARP on widefield fundus color imaging, fundus autofluorescence (FAF), and OCT were described. Tumor chromosome 3 status and the immunoprofile of the TARP also were collated.

RESULTS

Tumor-associated retinal pigmentation had a prevalence rate of 7.47 per 100 cases of choroidal melanoma at the LOOC. Twenty-three eyes with TARP were analyzed, with a mean age of 71.4 years (range, 51-88 years). The median largest basal diameter was 16.10 mm (range, 9.17-21.32 mm), and the mean tumor thickness was 8.04 mm (range, 1.40-13.80 mm). Tumor-associated retinal pigmentation was observed on widefield color fundus imaging, with hypofluorescence on FAF images and represented hyperreflective foci located in intraretinal and subretinal spaces on OCT scans. Seventeen patients (73.9%) underwent enucleation, and 6 patients (26.1%) underwent globe-sparing treatment. Molecular genetic analysis of 20 choroidal melanomas (after enucleation or radiotherapy biopsy) revealed monosomy 3 in 18 tumors (90%). Immunostaining of the TARP in enucleated eyes showed CD68+ melanophages in all 17 patients appearing as scattered cells and aggregates; MelanA findings were negative.

CONCLUSIONS

Tumor-associated retinal pigmentation represents tumor-associated macrophages, not melanocytes, within intraretinal and subretinal spaces of larger choroidal melanomas. Radiation treatments need not involve this area in the treatment plan, minimizing radiation-related complications. This novel clinical sign seems to be linked to tumors of high metastatic-risk clinical and genetic characteristics, with a preponderance having monosomy 3 anomalies.

FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

摘要

目的

报告一种以前未被识别的脉络膜黑色素瘤临床特征,称为肿瘤相关视网膜色素沉着(TARP),并确定其与肿瘤生物学的任何相关性。

设计

对英国利物浦眼部肿瘤中心(LOOC)回顾性队列患者的影像学和组织学分析。

参与者

在 2020 年 1 月至 2023 年 1 月期间,在 LOOC 通过眼底镜检查被诊断为脉络膜黑色素瘤且存在 TARP 的患者。

方法

记录诊断为脉络膜黑色素瘤且眼底镜检查显示 TARP 的患者的临床和影像学特征。收集这些脉络膜黑色素瘤的详细信息,并与组织病理学和分子遗传学报告相关联。评估每个肿瘤的染色体 3 状态。在眼球摘除样本中,使用特定标志物(CD68 和 MelanA)进行免疫染色,以确定 TARP 的性质。

主要观察指标

描述宽视野眼底彩色成像、眼底自发荧光(FAF)和 OCT 上的 TARP 特征。还整理了肿瘤染色体 3 状态和 TARP 的免疫表型。

结果

LOOC 脉络膜黑色素瘤的 TARP 患病率为每 100 例 7.47 例。分析了 23 只 TARP 眼,平均年龄为 71.4 岁(51-88 岁)。中位最大基底直径为 16.10mm(9.17-21.32mm),平均肿瘤厚度为 8.04mm(1.40-13.80mm)。在宽视野彩色眼底成像上观察到肿瘤相关的视网膜色素沉着,FAF 图像上呈低荧光,OCT 扫描显示位于视网膜内和视网膜下空间的高反射焦点。17 名患者(73.9%)接受了眼球摘除术,6 名患者(26.1%)接受了保眼球治疗。对 20 例脉络膜黑色素瘤(眼球摘除或放疗活检后)的分子遗传学分析显示,18 例肿瘤(90%)存在三体 3。在眼球摘除的眼中进行 TARP 的免疫染色显示,17 名患者中的所有患者(17 名患者中的 17 名)均出现 CD68+黑色素瘤细胞,表现为散在细胞和聚集物;MelanA 结果为阴性。

结论

肿瘤相关的视网膜色素沉着代表较大脉络膜黑色素瘤的视网膜内和视网膜下空间中的肿瘤相关巨噬细胞,而不是黑色素细胞。放射治疗方案不需要包括该区域,从而最大程度地减少与放射相关的并发症。这种新的临床征象似乎与具有高转移风险的临床和遗传特征的肿瘤有关,其三体 3 异常居多。

财务披露

作者没有与本文讨论的材料有关的专有或商业利益。

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