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GNA11 Mutation in an Intracranial Melanocytoma with Orbital Involvement and Nevus of Ota.
Ophthalmic Plastic and Reconstructive Surgery ( IF 2 ) Pub Date : 2021-11-08 , DOI: 10.1097/iop.0000000000002081
Henry W Zhou 1 , Ann Q Tran 1, 2 , Victoria S North 1 , David Zagzag 3, 4 , Chandranath Sen 4 , Michael Kazim 1
Affiliation  

The prognostic value of mutations in G-protein genes GNAQ and GNA11 in patients with intracranial and orbital melanocytomas is unknown. The authors present a case of GNA11 mutation (GNA11Q209L) in a 32-year-old male suffering from a meningeal melanocytoma with orbital involvement and ipsilateral Nevus of Ota. The patient underwent gamma knife stereotactic radiosurgery without biopsy and later partial transcranial resection of the melanocytic tumor that was subject to immunohistochemical and molecular analysis. A 50-gene next-generation sequencing panel revealed a 626A>T mutation in the GNA11 gene. One year later, intracranial extension of the melanocytoma necessitated a ventriculoperitoneal shunt and immunotherapy. Future work is needed to determine how GNA11 mutations in melanocytomas influence prognosis and monitoring strategies.

中文翻译:

伴有眼眶受累和太田痣的颅内黑色素细胞瘤中的 GNA11 突变。

G 蛋白基因 GNAQ 和 GNA11 突变对颅内和眼眶黑色素细胞瘤患者的预后价值尚不清楚。作者介绍了一名 32 岁男性患有 GNA11 突变 (GNA11Q209L) 的病例,该男性患有脑膜黑色素细胞瘤,伴有眼眶受累和同侧太田痣。该患者接受了伽玛刀立体定向放射外科治疗,无需进行活检,随后对黑色素细胞肿瘤进行部分经颅切除,并进行免疫组织化学和分子分析。50 个基因的下一代测序小组揭示了 GNA11 基因中的 626A>T 突变。一年后,黑色素细胞瘤向颅内扩展,需要进行脑室腹腔分流术和免疫治疗。未来的工作需要确定黑色素细胞瘤中的 GNA11 突变如何影响预后和监测策略。
更新日期:2021-11-08
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