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摘要
在过去的几年中,我们已经看到了用于治疗癌症患者的分子病理学的不断发展。 从分子数据获得的信息已经改变了我们对癌症生物学多样性的思考,特别是在眼科肿瘤学领域。 它已改变了在横纹肌肉瘤和视网膜母细胞瘤等小儿癌症以及葡萄膜黑色素瘤和淋巴瘤等成年癌症领域中作出治疗决定和有关患者监护的决定的方式。 更好地定义这些癌症的分子分类以及所涉及的不同生物学途径,对于病理学家和眼科医师的理解都是至关重要的。 基于基因组的靶向或扩展分析的分子测试现已上市。 可以使用肿瘤组织或生物流体(尤其是血液)进行这些测试,以预测肿瘤的预后,尤其是靶向疗法,免疫疗法甚至化学疗法的益处。 由于相关的转移风险,在葡萄膜黑色素瘤中寻找BAP1突变至关重要。 在治疗视网膜母细胞瘤时,必须评估RB1的遗传状况。 对于局部晚期肿瘤,结膜黑色素瘤需要对BRAF突变进行调查。 对基因组改变,分子测试和/或其他生物学测试的结果可预测治疗反应的理解,以及对这些测试相对于可用生物资源的局限性的理解,对眼科肿瘤学的最佳患者管理提出了重大挑战 。 在这篇综述中,我们介绍了眼科肿瘤学中有关不同分子改变和感兴趣的治疗靶点的最新研究进展。
关键词: 分子病理学,眼肿瘤,常规临床实践,眼科肿瘤学,成视网膜细胞瘤,BRAF
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