Division of Oculofacial Plastic and Orbital Surgery, University of California, San Francisco, CA 94115, USA.
Can J Ophthalmol. 2012 Jun;47(3):246-53. doi: 10.1016/j.jcjo.2012.03.038.
To review the evidence for molecular genetic testing of uveal melanoma in the context of prognostic indicators of metastasis and tumour-related mortality.
Review of the literature and personal experiences of the authors.
We conducted a MEDLINE, Embase, and PubMed literature search (1980-2011) for English-language abstracts and full-text references regarding molecular genetic testing of uveal melanoma. Search terms included uveal, melanoma, cytogenetic, gene, and molecular. All studies in which patients with primary uveal melanoma underwent molecular genetic testing with survival data for disease-related metastasis and mortality were reviewed.
From 176 identified articles, 40 were scientific studies of uveal melanomas that included histologic and molecular genetic analysis. Of those, 24 included survival data, correlation of molecular genetic features with other prognostic indicators, or both. Cytogenetic and microarray gene expression analysis allows uveal melanoma lesions to be classified as high risk or low risk for metastasis and disease-related mortality. Gene expression profiling supersedes clinical, histologic, and cytogenetic prognosticators.
Uveal melanoma comprises a heterogeneous group of malignancies based on its molecular biology. Molecular class by gene expression profiling has the most strongly predictive value for uveal melanoma metastasis and mortality.
根据转移和肿瘤相关死亡率的预后指标，回顾葡萄膜黑色素瘤的分子遗传学检测的证据。
文献回顾和作者的个人经验。
我们对 MEDLINE、Embase 和 PubMed 文献进行了检索（1980-2011 年），以获取有关葡萄膜黑色素瘤分子遗传学检测的英文摘要和全文参考文献。检索词包括葡萄膜、黑色素瘤、细胞遗传学、基因和分子。所有对原发性葡萄膜黑色素瘤患者进行分子遗传学检测并具有疾病相关转移和死亡率生存数据的研究都进行了回顾。
从 176 篇确定的文章中，有 40 篇是关于葡萄膜黑色素瘤的科学研究，包括组织学和分子遗传学分析。其中 24 项研究包括生存数据、分子遗传特征与其他预后指标的相关性或两者兼有。细胞遗传学和微阵列基因表达分析可将葡萄膜黑色素瘤病变分为转移和疾病相关死亡率高风险或低风险。基因表达谱分析优于临床、组织学和细胞遗传学预后指标。
葡萄膜黑色素瘤基于其分子生物学，由一组异质性恶性肿瘤组成。通过基因表达谱进行的分子分类对葡萄膜黑色素瘤的转移和死亡率具有最强的预测价值。
