Department of Pathology, Indiana University School of Medicine, IN 46202, U.S.A.
Cancer Genomics Proteomics. 2012 Sep-Oct;9(5):337-41.
BACKGROUND/AIM: Activating mutations in the KRAS gene are found in more than 30% of colorectal tumors, where they are associated with a poor response to anti-epidermal growth factor receptor therapies. Mutation testing techniques have therefore become an urgent concern. Several methods for KRAS mutation detection have been described in the literature. Most of these are laboratory developed tests and only a few commercial assays are currently available.
We studied the performance characteristics of a KRAS mutation detection assay on the ABI-3130XL genetic analyzer using a new commercial mutation detection kit based on shifted termination assay technology. Samples were analyzed in parallel by different reference laboratories using alternative methodologies. Various sample types were used including formalin-fixed paraffin-embedded tissue, fine-needle aspirates, and cyst fluid specimens.
A high level of agreement (100% correlation for formalin-fixed paraffin-embedded tissue and fine-needle aspirate samples and 93% correlation for cyst fluid specimens) was obtained despite the use of different methodologies.
Shift termination assay is a simple, robust, and sensitive method for the identification of KRAS mutations in a wide variety of specimen types.
背景/目的：KRAS 基因的激活突变存在于超过 30%的结直肠肿瘤中，与对表皮生长因子受体治疗的反应不佳有关。因此，突变检测技术成为当务之急。文献中已经描述了几种 KRAS 突变检测方法。其中大多数是实验室开发的检测方法，目前只有少数商业检测方法可用。
我们使用一种新的基于移码终止检测技术的商业突变检测试剂盒，在 ABI-3130XL 遗传分析仪上研究了 KRAS 突变检测分析的性能特征。不同的参考实验室使用替代方法平行分析了样本。使用了各种样本类型，包括福尔马林固定石蜡包埋组织、细针抽吸和囊液标本。
尽管使用了不同的方法，但仍获得了高度一致的结果（福尔马林固定石蜡包埋组织和细针抽吸样本的 100%相关性，囊液标本的 93%相关性）。
移码终止检测是一种简单、强大和敏感的方法，可用于鉴定各种样本类型中的 KRAS 突变。
