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首页> 外文期刊>British journal of ophthalmology >What hope for the future? GNAQ and uveal melanoma.
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What hope for the future? GNAQ and uveal melanoma.

机译:未来有什么希望? GNAQ和葡萄膜黑色素瘤。

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摘要

Uveal melanomas (UM) are aggressive ocular tumours that spread to the liver. They are characterised by alterations of chromosome 3 and 8, which are highly predictive of a poor prognosis. Unfortunately, being able to identify those patients with aggressive disease has not, as yet, translated into improved survival. Recently, mutations of guanine nucleotide-binding protein G(q) subunit alpha (GNAQ, or G-alpha-q), which effectively turn it into a dominantly acting oncogene, have been identified in approximately half of UM. These mutations are specific to UM and other non-cutaneous melanomas, and are not found in normal tissues, thus making them potential therapeutic targets. Here, the authors review the background to GNAQ in UM and explore what makes it such an interesting target for the future treatment of patients.
机译:葡萄膜黑色素瘤(UM)是侵袭性眼部肿瘤,会扩散到肝脏。它们的特征是3号和8号染色体发生改变,可高度预测不良预后。不幸的是,到目前为止,能够识别出那些患有侵略性疾病的患者还没有转化为存活率的提高。最近,已在大约一半的UM中鉴定出了鸟嘌呤核苷酸结合蛋白G(q)亚基α(GNAQ或G-alpha-q)的突变,该突变有效地将其转变为主要作用的癌基因。这些突变对UM和其他非皮肤黑色素瘤具有特异性,在正常组织中未发现,因此使其成为潜在的治疗靶标。在这里,作者回顾了UM中GNAQ的背景,并探讨了使其成为未来患者治疗的如此有趣目标的原因。

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