Duodenal adenoma/adenocarcinomas vs matched normal mucosa. Homo sapiens

Background: Duodenal adenoma/adenocarcinomas are rare, and the global gene expression changes associated with the initial stages of carcinogenesis of these neoplasms have not been elucidated. Results: To comprehensively analyze genetic markers and pathways specific to early-stage duodenal adenoma/adenocarcinomas, transcriptional profiles of 4 fresh-frozen non-ampullary duodenal adenoma/adenocarcinomas and surrounding duodenal normal mucosa were compared. Key features of gene expression analysis demonstrated a strong correlation between these tumors and colorectal adenomas, as well as the Wnt/β-catenin pathway. These results shed new light on the transcriptional changes that occur during the early stages of duodenal tumorigenesis. All samples were obtained prior to treatment in order to minimize effects of cauterization, and immediately fresh-frozen. Overall design: Biopsy samples from duodenal adenoma/adenocarcinomas and corresponding normal mucosa were obtained during endoscopy. The tissues were collected prospectively with informed consent and the approval of the institutional review board.

背景：十二指肠腺瘤/腺癌较为罕见，目前尚未阐明与这类肿瘤癌变初始阶段相关的全基因组表达变化。结果：为全面分析早期十二指肠腺瘤/腺癌的特异性遗传标志物及信号通路，本研究对4例新鲜冷冻（fresh-frozen）的非壶腹部十二指肠腺瘤/腺癌组织及其毗邻的十二指肠正常黏膜的转录组图谱（transcriptional profiles）进行了对比分析。基因表达分析的关键结果显示，此类肿瘤与结直肠腺瘤及Wnt/β-连环蛋白通路（Wnt/β-catenin pathway）存在显著相关性。本研究结果为十二指肠肿瘤发生早期阶段的转录组变化提供了新的见解。所有样本均于治疗前获取，以尽可能降低烧灼操作（cauterization）对样本的影响，并在获取后立即进行新鲜冷冻保存。整体设计：通过内镜检查获取十二指肠腺瘤/腺癌活检样本及其配对的正常黏膜组织。所有组织均前瞻性收集，并已获得受试者的知情同意以及机构伦理审查委员会（institutional review board）的批准。