Sloane Hillary S, Landers James P, Kelly Kimberly A
Department of Chemistry, University of Virginia, Charlottesville, Virginia.
Department of Chemistry, University of Virginia, Charlottesville, Virginia; Department of Pathology, University of Virginia, Charlottesville, Virginia; Department of Mechanical Engineering, University of Virginia, Charlottesville, Virginia.
J Mol Diagn. 2016 Jul;18(4):546-53. doi: 10.1016/j.jmoldx.2016.02.004. Epub 2016 Jun 8.
KRAS mutations have emerged as powerful predictors of response to targeted therapies in the treatment of lung and colorectal cancers; thus, prospective KRAS genotyping is essential for appropriate treatment stratification. Conventional mutation testing technologies are not ideal for routine clinical screening, as they often involve complex, time-consuming processes and/or costly instrumentation. In response, we recently introduced a unique analytical strategy for revealing KRAS mutations, based on the allele-specific hybridization-induced aggregation (HIA) of oligonucleotide probe-conjugated microbeads. Using simple, inexpensive instrumentation, this approach allows for the detection of any common KRAS mutation in <10 minutes after PCR. Here, we evaluate the clinical utility of the HIA method for mutation detection (HIAMD). In the analysis of 20 lung and colon tumor pathology specimens, we observed a 100% correlation between the KRAS mutation statuses determined by HIAMD and sequencing. In addition, we were able to detect KRAS mutations in a background of 75% wild-type DNA-a finding consistent with that reported for sequencing. With this, we show that HIAMD allows for the rapid and cost-effective detection of KRAS mutations, without compromising analytical performance. These results indicate the validity of HIAMD as a mutation-testing technology suitable for practical clinical testing. Further expansion of this platform may involve the detection of mutations in other key oncogenic pathways.
KRAS突变已成为肺癌和结直肠癌靶向治疗反应的有力预测指标;因此,前瞻性KRAS基因分型对于恰当的治疗分层至关重要。传统的突变检测技术并不适合常规临床筛查,因为它们通常涉及复杂、耗时的过程和/或昂贵的仪器设备。作为回应,我们最近推出了一种独特的分析策略,用于揭示KRAS突变,该策略基于寡核苷酸探针偶联微珠的等位基因特异性杂交诱导聚集(HIA)。使用简单、廉价的仪器设备,这种方法能够在PCR后不到10分钟内检测到任何常见的KRAS突变。在此,我们评估了用于突变检测的HIA方法(HIAMD)的临床实用性。在对20份肺和结肠肿瘤病理标本的分析中,我们观察到HIAMD确定的KRAS突变状态与测序结果之间的相关性为100%。此外,我们能够在75%野生型DNA的背景下检测到KRAS突变——这一发现与测序报告的结果一致。由此,我们表明HIAMD能够快速且经济高效地检测KRAS突变,同时不影响分析性能。这些结果表明HIAMD作为一种适用于实际临床检测的突变检测技术的有效性。该平台的进一步扩展可能涉及检测其他关键致癌途径中的突变。