Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine, OH, USA.
Sheba Medical Center, Tel-HaShomer, affiliated with the Tel-Aviv University, Israel.
Inflamm Bowel Dis. 2020 Sep 18;26(10):1485-1489. doi: 10.1093/ibd/izaa217.
Inflammatory bowel diseases (IBDs) are highly heterogeneous in disease phenotype, behavior, and response to therapy. Diagnostic and therapeutic decisions in IBD are based primarily on clinical and endoscopic severity and histopathologic analysis of intestinal biopsies. With this approach, however, only a minority of patients experience durable remission. This may be due to substantial heterogeneity in disease pathogenicity that is not accounted for by current classification systems. Patients can present with similar clinical and endoscopic severity and receive similar therapy but show divergent response ranging from mucosal/transmural healing to nonresponse. Using mucosal biopsy samples that are already obtained as part of the clinical practice to support the diagnosis and state-of-the-art high throughput sequencing approaches can detect the widest range in host gene expression in the actual lining of the affected gut. These analyses can better dissect disease heterogeneity and guide potential treatment response. Here we review studies that use gut tissue-based gene expression profiles to predict disease outcome in IBD.
炎症性肠病（IBD）在疾病表型、行为和治疗反应方面具有高度异质性。IBD 的诊断和治疗决策主要基于临床和内镜严重程度以及肠道活检的组织病理学分析。然而，采用这种方法，只有少数患者能够获得持久缓解。这可能是由于疾病发病机制存在实质性异质性，而当前的分类系统并未考虑到这一点。患者可能表现出相似的临床和内镜严重程度，并接受相似的治疗，但反应却不同，从黏膜/黏膜下愈合到无反应不等。利用已经作为临床实践一部分获得的黏膜活检样本，结合最先进的高通量测序方法，可以检测到受影响肠道实际衬里中宿主基因表达的最大范围。这些分析可以更好地剖析疾病异质性，并指导潜在的治疗反应。在这里，我们回顾了使用肠道组织基因表达谱来预测 IBD 疾病结局的研究。
