PURPOSE GNAQ mutations have been identified in port wine stains (both syndromic and nonsyndromic) and melanocytic ocular neoplasms. This study investigates the presence of GNAQ mutations in diffuse (those associated with Sturge-Weber syndrome [SWS]) and solitary choroidal hemangiomas. PARTICIPANTS Tissue from 11 patients with the following diagnoses: port wine stain (n = 3), diffuse choroidal hemangioma (n = 1), solitary choroidal hemangioma (n = 6), and choroidal nevus (n = 1). METHODS Ten specimens were interrogated with Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets, a hybridization capture-based next-generation sequencing assay for targeted deep sequencing of all exons and selected introns of 468 key cancer genes in formalin-fixed, paraffin-embedded tumors. Digital polymerase chain reaction was used to detect GNAQ Q209 mutation in 1 specimen. MAIN OUTCOME MEASURES Detection of GNAQ codon-specific mutation. RESULTS Activating somatic GNAQ mutations (c.547C > T; p.Arg183Cys) were found in 100% (3 of 3) of the port wine stain and in the diffuse choroidal hemangioma. Somatic GNAQ mutations (c.626A > T; p.Gln209Leu) were found in 100% (6 of 6) of the solitary choroidal hemangiomas and (c.626A > C; p.Gln209Pro) in the choroidal nevus. CONCLUSIONS GNAQ mutations occur in both diffuse and solitary hemangiomas, although at distinct codons. An R183 codon is mutant in diffuse choroidal hemangiomas, consistent with other Sturge-Weber vascular malformations. By contrast, solitary choroidal hemangiomas have mutations in the Q209 codon, similar to other intraocular melanocytic neoplasms.

中文翻译：

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弥漫性和孤立性脉络膜血管瘤中的 GNAQ 突变。

目的 GNAQ 突变已在鲜红斑痣（综合征性和非综合征性）和黑素细胞性眼肿瘤中得到鉴定。本研究调查了弥漫性（与 Sturge-Weber 综合征 [SWS] 相关的那些）和孤立性脉络膜血管瘤中 GNAQ 突变的存在。参与者 来自具有以下诊断的 11 名患者的组织：鲜红斑痣 (n = 3)、弥漫性脉络膜血管瘤 (n = 1)、孤立性脉络膜血管瘤 (n = 6) 和脉络膜痣 (n = 1)。方法 用纪念斯隆凯特琳癌症靶标综合突变分析法对 10 个标本进行了询问，这是一种基于杂交捕获的下一代测序分析，用于对福尔马林固定的石蜡中 468 个关键癌症基因的所有外显子和选定的内含子进行靶向深度测序。嵌入肿瘤。数字聚合酶链反应用于检测 1 个标本中的 GNAQ Q209 突变。主要观察指标检测 GNAQ 密码子特异性突变。结果 激活体细胞 GNAQ 突变（c.547C > T；p.Arg183Cys）在 100%（3 个中的 3 个）的鲜红斑痣和弥漫性脉络膜血管瘤中被发现。体细胞 GNAQ 突变（c.626A > T；p.Gln209Leu）在 100%（6 个中的 6 个）的孤立性脉络膜血管瘤和（c.626A > C；p.Gln209Pro）在脉络膜痣中被发现。结论 GNAQ 突变发生在弥漫性和孤立性血管瘤中，尽管密码子不同。R183 密码子在弥漫性脉络膜血管瘤中是突变的，与其他 Sturge-Weber 血管畸形一致。相比之下，孤立性脉络膜血管瘤在 Q209 密码子中有突变，类似于其他眼内黑素细胞肿瘤。