A single biopsy is valid for genetic diagnosis of eosinophilic esophagitis regardless of tissue preservation or location in the esophagus.
A single biopsy is valid for genetic diagnosis of eosinophilic esophagitis regardless of tissue preservation or location in the esophagus.
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DOI：
10.15403/jgld.2014.1121.242.bsy
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发表时间：
2015-06
期刊：
影响因子：
--
通讯作者：
Stover J
中科院分区：
文献类型：
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作者：
Dellon ES;Yellore V;Andreatta M;Stover J
一种新的基因表达谱测试可以区分嗜酸性食管炎(EoE)和胃食道反流病(GERD)，但最佳的组织准备和活检位置尚不清楚。我们的目的是确定来自新诊断的EoE患者的福尔马林固定石蜡包埋(FFPE)和RNA稍后(RNAL)保存的标本是否具有相同的基因表达评分，以及评分是否因食道活检位置而异。我们分析了来自EoE患者和GERD对照组的前瞻性收集和储存的食道活检组织。来自远端、中段和近端的FFPE和RNAL样本被配对使用。提取RNA，并用汇总表达分数对先前构建的96个基因面板的基因表达进行量化。比较EoE和GERD患者之间、FFPE和RNAL样本之间以及不同食道位置之间的评分。分析了来自9例EoE患者和3例GERD对照的72份FFPE和RNAL样本。FFPE和RNAL的总体基因表达评分中位数相似(238vs227；p=0.64)，相关性良好(Spearman‘s Rho=0.9；p<；0.001)，活检水平无差异。基因评分的中位数可以区分EoE和对照组(134vs402；p=0.02)，保存方法和EoE病例状态之间的总体一致性很好(kappa=1.0；p<；0.001)。FFPE和RNAL的基因表达得分相同，三个食道位置的基因表达得分也相似。这意味着从食道的任何地方进行FFPE或RNAL的单次活检都有可能用于EoE的基因诊断。
A new gene expression profile test may distinguish eosinophilic esophagitis (EoE) and gastroesophageal reflux disease (GERD), but the optimal tissue preparation and biopsy location are unknown. We aimed to determine if formalin-fixed paraffin-embedded (FFPE) and RNA-later (RNAL) preserved specimens from newly diagnosed EoE patients have equivalent gene expression scores and whether scores vary by esophageal biopsy location. We analyzed prospectively collected and banked esophageal biopsies from EoE patients and GERD controls. Paired FFPE and RNAL samples from the distal, mid, and proximal esophagus were used. RNA was extracted, and gene expression for a previously constructed 96 gene panel was quantified with a summary expression score. Scores were compared between EoE and GERD patients, between FFPE and RNAL samples, and between the different esophageal locations. A total of 72 samples, representing paired FFPE and RNAL specimens from 9 EoE cases and 3 GERD controls, were analyzed. Overall median gene expression scores were similar between FFPE and RNAL (238 vs 227; p=0.64), correlation was excellent between FFPE and RNAL (Spearman’s rho=0.90; p<0.001), and there were no differences by biopsy level. Median gene scores distinguished EoE from controls (134 vs 402; p=0.02), and overall agreement between preservation methods and EoE case status was perfect (kappa=1.0; p<0.001). Gene expression scores were equivalent in FFPE and RNAL, and were also similar across three esophageal locations. This implies that a single biopsy in either FFPE or RNAL from anywhere in the esophagus may have the potential for genetic diagnosis of EoE.