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CpG Island Methylation, Microsatellite Instability, and BRAF Mutations and Their Clinical Application in the Treatment of Colon Cancer

机译：CpG岛甲基化，微卫星不稳定性和BRAF突变及其在结肠癌治疗中的临床应用

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There have been significant developments in colon cancer research over the last few years, enabling us to better characterize tumors individually and classifying them according to certain molecular or genetic features. Currently, we are able to use KRAS mutational status as a guide to therapy with anti-epidermal growth factor receptor antibodies. Other molecular features under research include BRAF mutation, microsatellite instability, and CpG island methylation. These three molecular features are often associated with tumors that have overlapping phenotypes and can be present simultaneously in the same tumor. However, they carry different prognostic and predictive qualities, making analysis of their interaction relatively complex. Much research thus far has examined the clinical relevance of microsatellite instability in helping determine prognosis and the predictive value of adjuvant 5-fluorouracil chemotherapy in stages II and III colon cancers. BRAF mutation appears to be a biomarker for poor prognosis. CpG island methylation is tightly associated with microsatellite instable tumors and BRAF mutation, but its clinical utility remains uncertain. Hereby, we examine preclinical and clinical data that supports the utilization of all three phenotypes in future research applied to clinical practice.
机译：过去几年中，结肠癌研究取得了重大进展，这使我们能够更好地单独表征肿瘤，并根据某些分子或遗传特征对其进行分类。目前，我们能够使用KRAS突变状态作为抗表皮生长因子受体抗体治疗的指南。研究中的其他分子特征包括BRAF突变，微卫星不稳定性和CpG岛甲基化。这三个分子特征通常与具有重叠表型的肿瘤有关，并且可以同时存在于同一肿瘤中。但是，它们具有不同的预后和预测质量，因此对其相互作用的分析相对复杂。迄今为止，许多研究已经检验了微卫星不稳定性在帮助确定II期和III期结肠癌的辅助5氟尿嘧啶化疗的预后以及预测价值方面的临床意义。 BRAF突变似乎是预后不良的生物标志。 CpG岛甲基化与微卫星不稳定的肿瘤和BRAF突变紧密相关，但其临床应用仍不确定。因此，我们在支持临床实践的未来研究中研究了支持所有三种表型利用的临床前和临床数据。

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