Translating Uveal Melanoma Cytogenetics Into Clinical Care
Translating Uveal Melanoma Cytogenetics Into Clinical Care
复制标题
DOI：
10.1001/archophthalmol.2009.40
复制
发表时间：
2009-04-01
影响因子：
--
通讯作者：
Coupland, Sarah E.
中科院分区：
文献类型：
--
作者：
Damato, Bertil;Coupland, Sarah E.
目的：报告我们的经验，在翻译葡萄膜黑色素瘤细胞遗传学的常规临床practice.Methods：在1998年，我们证实，单体3葡萄膜黑色素瘤与死亡率。1999年，我们开始为所有接受眼球摘除术或局部切除术的患者提供使用荧光原位杂交进行单体3检测的可能性。2006年，我们开始用多重连接依赖探针扩增技术分析肿瘤，这可以从更小的样本中提供更多的信息。在2007年，我们扩大了这项服务，接受放疗或光疗的患者。结果：单体3测试在预测转移性死亡的敏感性和特异性的初步预期被认为是过于乐观。葡萄膜黑色素瘤细胞遗传学分类为“致死性”和“非致死性”类型是不足以估计转移的风险。预测还需要考虑（1）临床肿瘤分期;（2）恶性肿瘤的组织学分级;（3）年龄和性别对预期寿命的影响。我们开发了一个神经网络，这样的多变量分析。转移性死亡发生没有单体3，可能是因为小的缺失被遗漏或因为肿瘤heterogeneity.Conclusion：葡萄膜黑色素瘤的基因组分型证明比我们预期的更复杂，但使我们能够保证患者预后良好，同时针对系统筛查高危病例。
Objective: To report our experience in translating uveal melanoma cytogenetics to routine clinical practice.Methods: In 1998, we confirmed that monosomy 3 in uveal melanomas correlates with mortality. In 1999, we started offering all patients treated by enucleation or local resection the possibility of monosomy 3 testing, using fluorescence in situ hybridization. In 2006, we started analyzing tumors with multiplex ligation-dependent probe amplification, which provided more information from smaller samples. In 2007, we extended this service to patients undergoing radiotherapy or phototherapy.Results: Initial expectations regarding the sensitivity and specificity of monosomy 3 tests in predicting metastatic death were found to be overoptimistic. Cytogenetic classification of uveal melanomas into "lethal" and "nonlethal" types was insufficient for estimating risk of metastasis. Prognostication also required consideration of (1) clinical tumor stage; (2) histologic grading of malignancy; and (3) influence of age and sex on life expectancy. We developed a neural network for such multivariate analysis. Metastatic deaths occurred without monosomy 3, possibly because small deletions were missed or because of tumor heterogeneity.Conclusion: Genomic typing of uveal melanomas proved more complex than we had anticipated but enabled us to reassure patients with a good prognosis while targeting systemic screening at high-risk cases.