Uveal melanoma: epidemiology, etiology, and treatment of primary disease.
Uveal melanoma: epidemiology, etiology, and treatment of primary disease.
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DOI：
10.2147/opth.s89591
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Carvajal RD
中科院分区：
文献类型：
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作者：
Krantz BA;Dave N;Komatsubara KM;Marr BP;Carvajal RD
葡萄膜黑色素瘤（UM）是最常见的眼内恶性肿瘤，起源于虹膜、睫状体或脉络膜中的黑素细胞。早期诊断和局部治疗至关重要，因为生存率与原发肿瘤大小相关。然而，大约50%的患者将发展为转移性疾病，从转移性诊断起存活6-12个月。基因组分析已经导致基因表达谱的发展，有效地预测转移进展;不幸的是，没有辅助治疗已被证明可以延长生存期。对UM分子生物学的新见解发现了编码G蛋白α亚基、GNAQ和GNA 11的基因中频繁的激活突变，并且对下游信号通路MAPK、PI 3 K/Akt和Hippo的理解有所提高，为治疗这种疾病提供了一系列新的靶点。目前正在研究针对这些途径的合理开发方案，并正在开发新的药物。我们回顾了原发性UM的诊断、治疗和监测以及正在进行的辅助治疗试验。
Uveal melanoma (UM) is the most common intraocular malignancy and arises from melanocytes in the iris, ciliary body, or choroid. Early diagnosis and local treatment is crucial, as survival correlates with primary tumor size. However, approximately 50% of patients will develop metastatic disease with 6–12 months’ survival from metastatic diagnosis. Genomic analyses have led to the development of gene-expression profiles that effectively predict metastatic progression; unfortunately, no adjuvant therapy has been shown to prolong survival to date. New insights into the molecular biology of UM have found frequent activating mutations in genes encoding for the G-protein α-subunit, GNAQ and GNA11, and improved understanding of the downstream signaling pathways MAPK, PI3K/Akt, and Hippo have afforded an array of new targets for treatment of this disease. Studies are under way with rationally developed regimens targeting these pathways, and novel agents are under development. We review the diagnosis, management, and surveillance of primary UM and the adjuvant therapy trials under way.