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Expert Rev Mol Diagn. 2011 Jul;11(6):635-42. doi: 10.1586/erm.11.42.
The determination of KRAS mutational status from tumor samples has become an important tool for patient management in colorectal and non-small-cell lung cancers. Mutations in critical areas of the gene, such as codons 12 and 13, are a negative predictor of response to anti-EGF receptor antibodies in colorectal cancer, and similarly are indicators of resistance to small-molecule tyrosine kinase inhibitors in non-small-cell lung cancer patients. A variety of laboratory methods have been developed to assess mutation status in key regions of the KRAS gene. Many of these methods, including allele-specific PCR, real-time PCR methods with melt-curve analysis, and nucleic acid sequencing techniques, provide the appropriate analytical performance to address tissue heterogeneity in tumor samples. The pathologist plays a key role in this process because assessment of morphological features of the tumor is important prior to molecular analysis. This article provides a summary of the performance characteristics of various molecular testing methods and addresses other key aspects of testing necessary to provide relevant information to help determine appropriate therapy choices.
从肿瘤样本中确定 KRAS 基因突变状态已成为结直肠癌和非小细胞肺癌患者管理的重要工具。基因关键区域（如密码子 12 和 13）的突变是结直肠癌中抗表皮生长因子受体抗体反应的负预测因子，同样也是非小细胞肺癌患者对小分子酪氨酸激酶抑制剂耐药的指标。已经开发了多种实验室方法来评估 KRAS 基因关键区域的突变状态。其中许多方法，包括等位基因特异性 PCR、带有熔解曲线分析的实时 PCR 方法和核酸测序技术，提供了适当的分析性能来解决肿瘤样本中的组织异质性。病理学家在这个过程中起着关键作用，因为在进行分子分析之前，评估肿瘤的形态特征很重要。本文总结了各种分子检测方法的性能特征，并讨论了进行其他关键检测方面的必要性，以提供相关信息，帮助确定合适的治疗选择。
