Department of Gastroenterology, University of Utah, Salt Lake City, Utah, USA.
Huntsman Cancer Institute, Salt Lake City, Utah, USA.
Clin Transl Gastroenterol. 2019 Dec;10(12):e00104. doi: 10.14309/ctg.0000000000000104.
Sessile serrated adenoma/polyps (SSA/Ps) contribute up to 30% of all colon cancers. There is considerable histological overlap between SSA/Ps and hyperplastic polyps. Inadequate consensus exists among pathologists, and no molecular biomarkers exist to differentiate these lesions with high accuracy. Lack of reliable diagnosis adversely affects clinical care. We previously defined a novel 7-gene panel by RNA sequencing that differentiates SSA/Ps from hyperplastic polyps. Here, we use the 7-gene panel as a molecular approach to differentiate SSA/Ps and HPs with higher sensitivity and specificity in a large sample set from a tertiary health care center.
Reverse transcription quantitative polymerase chain reaction of the 7-gene panel was performed on 223 formalin-fixed, paraffin-embedded serrated polyp and normal colon samples. We compare the sensitivity and specificity of the 7-gene panel with the BRAF and KRAS mutation incidence in differentiating SSA/Ps and HPs. We also evaluate the clinical data of patients with SSA/Ps showing high and low expression of the gene panel.
The 7-gene RNA expression panel differentiates SSA/Ps and HPs with 89.2% sensitivity and 88.4% specificity. The gene panel outperforms BRAF mutation in identification of SSA/Ps. Clinical data suggest that expression of the 7-gene panel correlates with the development of SSA/Ps in the future.
This study describes a novel 7-gene panel that identifies SSA/Ps with improved accuracy. Our data show that RNA markers of SSA/Ps advance the distinction of serrated lesions and contribute to the study of the serrated pathway to colon cancer.
无蒂锯齿状腺瘤/息肉（SSA/Ps）占所有结肠癌的 30%。SSA/Ps 和增生性息肉在组织学上有很大的重叠。病理学家之间没有达成充分的共识，也没有分子生物标志物可以准确地区分这些病变。缺乏可靠的诊断会对临床护理产生不利影响。我们之前通过 RNA 测序定义了一个新的 7 基因面板，可将 SSA/Ps 与增生性息肉区分开来。在这里，我们使用 7 基因面板作为一种分子方法，在一个来自三级医疗中心的大样本集中，以更高的灵敏度和特异性来区分 SSA/Ps 和 HPs。
对 223 例福尔马林固定、石蜡包埋的锯齿状息肉和正常结肠样本进行 7 基因面板的逆转录定量聚合酶链反应。我们比较了 7 基因面板与 BRAF 和 KRAS 突变发生率在区分 SSA/Ps 和 HPs 中的敏感性和特异性。我们还评估了基因面板高表达和低表达的 SSA/Ps 患者的临床数据。
7 基因 RNA 表达面板区分 SSA/Ps 和 HPs 的灵敏度为 89.2%，特异性为 88.4%。该基因面板在识别 SSA/Ps 方面优于 BRAF 突变。临床数据表明，基因面板的表达与 SSA/Ps 的未来发展有关。
本研究描述了一种新的 7 基因面板，可提高识别 SSA/Ps 的准确性。我们的数据表明，SSA/Ps 的 RNA 标志物可提高锯齿状病变的鉴别准确性，并有助于对锯齿状途径导致结肠癌的研究。
