Case study of a neuroendocrine tumor of uncertain origin: single-cell transcriptomics unravels potential primary source

In this study, we present a clinical case of a patient with a retroperitoneal non-functional non-organ-confined neuroendocrine tumor, as determined by routine testing. The histogenesis of the tumor was assessed based on bulk and single-cell RNA sequencing (bulk RNA-seq and scRNA-seq) data, as standard diagnostic procedures proved ineffective. The use of publicly accessible bulk and single-cell RNA-seq data from pancreatic and small intestinal NETs allowed for the development and validation of gene signatures tailored to each specific localization of origin. Additionally, it enabled the prediction of the primary origin of the previously described NET, indicating that ectopic pancreatic tissue is the most probable source. Overall design: Neuroendocrine tumor sample from one patient was analyzed using single-cell RNA-seq

本研究报道1例经常规检测确诊的腹膜后无功能、非器官局限性神经内分泌肿瘤（neuroendocrine tumor, NET）患者的临床病例。因标准诊断流程无法明确该肿瘤的组织起源，我们借助批量RNA测序（bulk RNA-seq）与单细胞RNA测序（scRNA-seq）数据开展了组织发生学评估。通过调取公开的胰腺与小肠神经内分泌肿瘤的批量及单细胞RNA测序数据，我们开发并验证了适配不同原发部位的特异性基因特征集。此外，该特征集可用于预测前述神经内分泌肿瘤的原发部位，提示异位胰腺组织为其最可能的起源位点。实验整体设计：对1例患者的神经内分泌肿瘤样本实施单细胞RNA测序分析。