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经切除及伽玛刀立体定向放射外科治疗的原发性巩膜黑色素瘤,与葡萄膜黑色素瘤突变一致

Primary Episcleral Melanoma Consistent with Uveal Melanoma Mutations Treated by Excision and Gamma Knife Stereotactic Radiosurgery.

作者信息

Langevin Spencer T, Chang Eileen, Wang Tony J C, Deutsch Israel, Otten Marc, Marr Brian P

机构信息

Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, New York, USA.

Department of Ophthalmology, Nassau University Medical Center, East Meadow, New York, USA.

出版信息

Ocul Oncol Pathol. 2020 Mar;6(2):93-98. doi: 10.1159/000502309. Epub 2019 Sep 18.

Abstract

Ocular melanocytosis has traditionally been associated with increased risk of developing uveal melanoma; however, rarely primary episcleral melanoma has been reported in the literature. Herein, we present the third case of primary episcleral melanoma treated by complete excision and cryotherapy. In contrast to previous cases, we obtained molecular genetic testing which revealed a GNA-11 mutation, and gene expression profiling resulted in a Class 2 PRAME positive tumor diagnosis. These two tests which have never been performed on previous cases, support lineage similar to uveal melanoma. In addition, we are the first case to report treatment of the surgical bed and surrounding orbital tissue with Gamma Knife stereotactic radiotherapy to both treat residual tissue and decrease risk of recurrence.

摘要

传统上,眼黑变病与发生葡萄膜黑色素瘤的风险增加有关;然而,文献中很少报道原发性巩膜表层黑色素瘤。在此,我们报告第三例经完全切除和冷冻治疗的原发性巩膜表层黑色素瘤。与之前的病例不同,我们进行了分子基因检测,结果显示存在GNA-11突变,基因表达谱分析得出肿瘤诊断为2类PRAME阳性。这两项检测在之前的病例中从未进行过,支持其与葡萄膜黑色素瘤有相似的谱系。此外,我们是首例报告用伽玛刀立体定向放射治疗手术床及周围眼眶组织的病例,既能治疗残留组织,又能降低复发风险。

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本文引用的文献

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Sector (partial) oculo(dermal) melanocytosis in 89 eyes.89 只眼中的部分眼皮肤黑素细胞痣。
Ophthalmology. 2011 Dec;118(12):2474-9. doi: 10.1016/j.ophtha.2011.05.023. Epub 2011 Oct 22.
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Ophthalmology. 2011 Sep;118(9):1881-5. doi: 10.1016/j.ophtha.2011.01.040. Epub 2011 Jun 24.

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