ABSTRACT

Introduction

Conjunctival nevi are the most common tumor of the ocular surface. There are some rare reports of so-called ‘giant’ conjunctival nevi. We report a case of a 47-year-old female with a cutaneous and ocular surface giant congenital melanocytic nevus and describe her clinical course.

Case Description

This is a retrospective case report of a single patient. A 47-year-old female with a history of biopsy-proven periorbital congenital melanocytic nevus, with an associated giant conjunctival nevus presented for structural and functional rehabilitation. Serial surgeries were performed and excised tissue was sent for histopathological and genetic examination. The conjunctival nevus had a low tumor mutation burden, and of the 647 somatic mutations, only one occurred within a protein coding region, namely NRAS p.Gln61Arg.

Conclusion

This is the first reported adult case including genomic analysis of an ocular surface giant congenital melanocytic nevus. The case shows a possible association between periorbital congenital melanocytic nevi and giant conjunctival nevi, and underscores the possible role that targeted drug therapies may have in malignant transformation of these conditions.

中文翻译：

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成人眼表巨大先天性黑素细胞痣的基因组分析及相关的临床病理发现。

摘要

介绍

结膜痣是眼表最常见的肿瘤。有一些罕见的报道称所谓的“巨大”结膜痣。我们报告一例皮肤和眼表巨大先天性黑素细胞痣的47岁女性，并描述她的临床过程。

案例描述

这是一名患者的回顾性病例报告。一位47岁的女性，有活检证实的眶周先天性黑素细胞痣，并伴有结膜巨眼痣，以进行结构和功能康复。进行了一系列手术，并将切除的组织送去进行组织病理学和基因检查。结膜痣具有较低的肿瘤突变负担，在647个体细胞突变中，只有一个发生在蛋白质编码区内，即NRAS p.Gln61Arg。

结论

这是首次报道的成年病例，包括对眼表巨大先天性黑素细胞痣的基因组分析。该病例显示眶周先天性黑素细胞痣和结膜巨痣之间可能存在关联，并强调了靶向药物治疗在这些疾病的恶性转化中可能发挥的作用。