Background

Eosinophilic esophagitis (EoE) is a histologically “patchy” disease with uneven eosinophil distribution along the esophagus, posing a dilemma for histologically analyzing endoscopic biopsy samples, especially when biopsy samples are limited to only the distal esophagus.

Objective

We investigated whether molecular mRNA profiling of a distal esophageal biopsy sample predicts eosinophilia in the proximal esophagus.

Methods

Esophageal biopsy samples (n = 507) from subjects with EoE were collected from multiple institutions, spanning adults and pediatric patients. Subjects were grouped on the basis of distinct distal (D) and proximal (P) eosinophil counts (D⁺P⁺, D⁺P^–, D^-P⁺, and D^–P^–, with + and – defined as ≥15 or <15 eosinophils/hpf, respectively). Molecular profiles were assessed by using the EoE Diagnostic Panel (EDP), a set of 96 esophageal transcripts used to derive the EDP score.

Results

The distal EDP score was correlated with proximal eosinophil levels (r = –0.73; P < .0001). EDP analysis of a histologically negative distal biopsy sample predicted the presence of proximal esophagitis with high sensitivity (85%). In a 2-year follow-up focusing on the cases with discordant histologic and EDP results, histologically negative patients (D^–P^–) had higher rates of EoE relapse when the EDP was positive than when the EDP was negative (odds ratio = 11; P = .003), indicating predictive medicine capacity.

Conclusion

EDP analysis of a single distal esophageal biopsy sample predicts remote inflammation in patients with spatially heterogeneous eosinophilia and disease relapse in patients with histologic remission, providing diagnostic merit and predictive medicine capacity for molecular diagnosis of EoE.

中文翻译：

---

单次食管活检嗜酸性粒细胞性食管炎诊断组的诊断价值

背景

嗜酸性粒细胞性食管炎 (EoE) 是一种组织学上的“斑片状”疾病，嗜酸性粒细胞沿食管分布不均匀，给内窥镜活检样本的组织学分析带来了困境，尤其是当活检样本仅限于远端食管时。

客观的

我们调查了远端食管活检样本的分子 mRNA 分析是否可以预测近端食管嗜酸性粒细胞增多。

方法

来自多个机构的 EoE 受试者的食管活检样本 (n = 507)，涵盖成人和儿科患者。根据不同的远端 (D) 和近端 (P) 嗜酸性粒细胞计数（D ⁺ P ⁺、D ⁺ P ^–、D ^- P ⁺和 D ^– P ^–，+ 和 – 定义为≥15 或<15 个嗜酸性粒细胞/hpf，分别）。使用 EoE 诊断面板 (EDP) 评估分子概况，这是一组用于推导 EDP 评分的 96 个食管转录本。

结果

远端 EDP 评分与近端嗜酸性粒细胞水平相关 ( r  = –0.73; P  < .0001)。组织学阴性的远端活检样本的 EDP 分析预测近端食管炎的存在具有高灵敏度 (85%)。在关注组织学和 EDP 结果不一致的病例的 2 年随访中，组织学阴性患者 (D ^– P ^– ) 在 EDP 阳性时比 EDP 阴性时具有更高的 EoE 复发率（比值比 = 11 ; P  = .003)，表明具有预测医学能力。

结论

单个远端食管活检样本的 EDP 分析可预测空间异质性嗜酸性粒细胞增多患者的远处炎症和组织学缓解患者的疾病复发，为 EoE 的分子诊断提供诊断价值和预测医学能力。