Abstract：
Uveal melanoma (UM) and conjunctival melanoma (CM) are distinct entities with different etiologies and genetic background. We present a case of an atypical subconjunctival melanoma arising from a blue nevus.
A 61-year-old female presented with a partially melanocytic epibulbar mass with surrounding episcleral pigmented spots. The lesion was detached from the overlying conjunctiva without an intraocular component. Excisional biopsy revealed a predominantly epithelioid melanoma, that was suggested to be metastasic, although there was no evidence of a primary melanoma elsewhere.
Molecular analysis identified GNAQ and BAP1 pathogenic variants, which strongly suggested the diagnosis as a primary epibulbar melanoma arising from episcleral blue nevus.
This case demonstrates the value of tumor molecular analysis using Next Generation Sequencing (NGS) for differentiating the origin of an unusually located ocular melanoma.
A 61-year-old female presented with a partially melanocytic epibulbar mass with surrounding episcleral pigmented spots. The lesion was detached from the overlying conjunctiva without an intraocular component. Excisional biopsy revealed a predominantly epithelioid melanoma, that was suggested to be metastasic, although there was no evidence of a primary melanoma elsewhere.
Molecular analysis identified GNAQ and BAP1 pathogenic variants, which strongly suggested the diagnosis as a primary epibulbar melanoma arising from episcleral blue nevus.
This case demonstrates the value of tumor molecular analysis using Next Generation Sequencing (NGS) for differentiating the origin of an unusually located ocular melanoma.
摘要：
葡萄膜黑色素瘤（UM）和结膜黑色素瘤（CM）是具有不同病因和遗传背景的不同实体。我们介绍了一例由蓝色痣引起的非典型结膜下黑色素瘤。
一名61岁的女性，表现为部分黑素细胞性上球肿块，周围有巩膜上色素斑点。病变与上覆的结膜分离，没有眼内成分。切除活检显示主要为上皮样黑色素瘤，这被认为是转移的，尽管其他地方没有原发性黑色素瘤的证据。
分子分析确定了GNAQ和BAP1致病变体，这强烈表明诊断为由巩膜上蓝痣引起的原发性球团黑色素瘤。
此病例证明了使用下一代测序（NGS）进行肿瘤分子分析以区分异常定位的眼部黑色素瘤的起源的价值。
一名61岁的女性，表现为部分黑素细胞性上球肿块，周围有巩膜上色素斑点。病变与上覆的结膜分离，没有眼内成分。切除活检显示主要为上皮样黑色素瘤，这被认为是转移的，尽管其他地方没有原发性黑色素瘤的证据。
分子分析确定了GNAQ和BAP1致病变体，这强烈表明诊断为由巩膜上蓝痣引起的原发性球团黑色素瘤。
此病例证明了使用下一代测序（NGS）进行肿瘤分子分析以区分异常定位的眼部黑色素瘤的起源的价值。
